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1. Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease

Author: François Lestelle, Catherine Beigelman, David Rotzinger, Salim Si-Mohamed, Mouhamad Nasser, Lidwine Wemeau, Sandrine Hirschi, Grégoire Prevot, Antoine Roux, Vincent Bunel, Emmanuel Gomez, Laurent Sohier, Helene Morisse Pradier, Martine Reynaud Gaubert, Anne Gondouin, Romain Lazor, Jean-Charles Glerant, Françoise Thivolet Bejui, Magali Colombat, Vincent Cottin, and the OrphaLung network
Subjects: Light chain deposition disease, Lung cysts, Bronchiectasis, Lung transplantation, Diseases of the respiratory system, RC705-779
Abstract: Abstract Background Light chain deposition disease (LCDD) is a very rare entity. Clinical manifestations of LCDD vary according to the organs involved. Data on pulmonary LCDD are scarce and limited to small series or case reports. This study aimed to describe the characteristics and outcome of diffuse pulmonary non-amyloid LCDD localized to the lungs. Study design and methods A multicenter retrospective cohort study was conducted. Clinical characteristics were collected, and chest CTs were centrally reviewed. The diagnosis of pulmonary non-amyloid LCDD was confirmed by immunohistochemistry. Results Thirty-one cases were identified (68% female), with a median age at diagnosis of 50 years (IQR 20). Baseline FEV1/FVC was
Published: 2024
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2. Increased mortality in patients with RA-associated interstitial lung disease: data from a French administrative healthcare database

Author: Bruno Crestani, Philippe Dieude, Rene-Marc Flipo, Sebastien Ottaviani, Pierre-Antoine Juge, Lidwine Wemeau-Stervinou, and Joe Zhuo
Subjects: Medicine
Abstract: Objectives Interstitial lung disease (ILD) is a severe extra-articular manifestation of rheumatoid arthritis (RA). The objectives of this study were to estimate mortality rate in patients with RA-ILD and identify factors affecting mortality.Methods Data from a French national claims database (Système National des Données de Santé) from 2013 to 2018 were analysed. Adults with an RA diagnosis (International Classification of Diseases (ICD)-10 codes M05, M06.0, M06.8 and M06.9) were included. ILD diagnosis was defined with ICD-10 code J84. Mortality rates were compared between patients with RA with and without ILD, using Cox proportional hazards regression, after matching 1:1 for age, sex, age at RA-ILD onset and RA duration.Results Among 173 132 patients with RA, 4330 (3%) also had ILD (RA-ILD). After matching, RA-ILD was associated with an increased mortality rate (HR 3.4, 95% CI 3.1 to 3.9). The HR for mortality was greater for: patients aged
Published: 2023
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3. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Author: Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey, Marie Legendre, Aurélie Plessier, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Cottin, Nadia Nathan, and Bruno Crestani
Subjects: Interstitial pulmonary fibrosis, Telomerase, Surfactant, TERT, Familial, multidisciplinary discussion, Medicine
Abstract: Abstract Background Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Because multidisciplinary discussion (MDD) has been shown to improve accuracy of interstitial lung disease (ILD) diagnosis, we evaluated the feasibility of a genetic MDD (geneMDD) dedicated to the indication for and interpretation of genetic testing. The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend. Results Since 2016, physicians from 34 different centers in 7 countries have participated in the geneMDD. The medical files of 95 patients (53 males) have been discussed. The median age of patients was 43 years [range 0–77], 10 were ≤ 15 years old, and 6 were deceased at the time of the discussion. Among 85 analyses available, the geneMDD considered the rare gene variants pathogenic for 61: 37 variants in telomere-related genes, 23 variants in surfactant-related genes and 1 variant in MARS. Genetic counseling was offered for relatives of these patients. The geneMDD therapeutic proposals were as follows: antifibrotic drugs (n = 25), steroids or immunomodulatory therapy (n = 18), organ transplantation (n = 21), watch and wait (n = 21), or best supportive care (n = 4). Conclusion Our experience shows that a dedicated geneMDD is feasible regardless of a patient’s age and provides a unique opportunity to adapt patient management and therapy in this very rare condition.
Published: 2019
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4. Rituximab for auto-immune alveolar proteinosis, a real life cohort study

Author: Berenice Soyez, Raphael Borie, Cedric Menard, Jacques Cadranel, Leonidas Chavez, Vincent Cottin, Emmanuel Gomez, Sylvain Marchand-Adam, Sylvie Leroy, Jean-Marc Naccache, Hilario Nunes, Martine Reynaud-Gaubert, Laurent Savale, Abdellatif Tazi, Lidwine Wemeau-Stervinou, Marie-Pierre Debray, and Bruno Crestani
Subjects: Whole lung lavage, GM-CSF, Surfactant, Interstitial lung disease, Therapy, Diseases of the respiratory system, RC705-779
Abstract: Abstract Background Whole lung lavage is the current standard therapy for pulmonary alveolar proteinosis (PAP) that is characterized by the alveolar accumulation of surfactant. Rituximab showed promising results in auto-immune PAP (aPAP) related to anti-GM-CSF antibody. Methods We aimed to assess efficacy of rituximab in aPAP in real life and all patients with aPAP in France that received rituximab were retrospectively analyzed. Results Thirteen patients were included. No patients showed improvement 6 months after treatment, but, 4 patients (30%) presented a significant decrease of alveolar-arterial difference in oxygen after 1 year. One patient received lung transplantation and one patient was lost of follow-up within one year. Although a spontaneous improvement cannot be excluded in these 4 patients, improvement was more frequent in patients naïve to prior specific therapy and with higher level of anti-GM-CSF antibodies evaluated by ELISA. No serious adverse event was evidenced. Conclusions These data do not support rituximab as a second line therapy for patients with refractory aPAP.
Published: 2018
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5. Long-term evaluation of home-based pulmonary rehabilitation in patients with fibrotic idiopathic interstitial pneumonias

Author: Benoit Wallaert, Louise Duthoit, Elodie Drumez, Hélène Behal, Lidwine Wemeau, Cécile Chenivesse, and Jean-Marie Grosbois
Subjects: Medicine
Abstract: Background Few studies have examined the benefits of pulmonary rehabilitation in patients with fibrotic idiopathic pulmonary pneumonia (f-IIP). Here, we report the results of an observational study in routine clinical practice of home-based pulmonary rehabilitation for f-IIP patients. Methods A total of 112 consecutive patients (61 with idiopathic pulmonary fibrosis and 51 with fibrotic nonspecific interstitial pneumonitis) were enrolled, of whom 65 had mild-to-moderate disease (forced vital capacity (FVC) ≥50% predicted and diffusing capacity of the lung for carbon monoxide (DLCO) ≥30% predicted) and 47 had severe disease (FVC
Published: 2019
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6. Pembrolizumab-induced pneumonitis

Author: Vincent Leroy, Carole Templier, Jean-Baptiste Faivre, Arnaud Scherpereel, Clement Fournier, Laurent Mortier, and Lidwine Wemeau-Stervinou
Subjects: Medicine
Published: 2017
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7. Do We Need Exercise Tests to Detect Gas Exchange Impairment in Fibrotic Idiopathic Interstitial Pneumonias?

Author: Benoit Wallaert, Lidwine Wemeau-Stervinou, Julia Salleron, Isabelle Tillie-Leblond, and Thierry Perez
Subjects: Diseases of the respiratory system, RC705-779
Abstract: In patients with fibrotic idiopathic interstitial pneumonia (f-IIP), the diffusing capacity for carbon monoxide (DLCO) has been used to predict abnormal gas exchange in the lung. However, abnormal values for arterial blood gases during exercise are likely to be the most sensitive manifestations of lung disease. The aim of this study was to compare DLCO, resting PaO2, P(A-a)O2 at cardiopulmonary exercise testing peak, and oxygen desaturation during a 6-min walk test (6MWT). Results were obtained in 121 patients with idiopathic pulmonary fibrosis (IPF, n=88) and fibrotic nonspecific interstitial pneumonias (NSIP, n=33). All but 3 patients (97.5%) had low DLCO values (35 mmHg) and 100 (83%) demonstrated significant oxygen desaturation during 6MWT (>4%). Interestingly 27 patients had low DLCO and normal P(A-a)O2, peak and/or no desaturation during the 6MWT. The 3 patients with normal DLCO also had normal PaO2, normal P(A-a)O2, peak, and normal oxygen saturation during 6MWT. Our results demonstrate that in fibrotic IIP, DLCO better defines impairment of pulmonary gas exchange than resting PaO2, exercise P(A-a)O2, peak, or 6MWT SpO2.
Published: 2012
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8. Respiratory system oscillometric resistance decreases over time in idiopathic pulmonary fibrosis

Author: Tossan, Pauline, primary, Dirou, Stéphanie, additional, Lidwine, Wemeau, additional, Arnaud, Chambellan, additional, Thierry, Perez, additional, Cécile, Chenivesse, additional, Plamen, Bokov, additional, Bestega, Bayeh, additional, Sylvain, Marchand-Adam, additional, Elie, Guichard, additional, and Laurent, Plantier, additional
Published: 2023
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9. French recommendations for the diagnosis and management of lymphangioleiomyomatosis

Author: Vincent Cottin, Elodie Blanchard, Mallorie Kerjouan, Romain Lazor, Martine Reynaud-Gaubert, Camille Taille, Yurdagül Uzunhan, Lidwine Wemeau, Claire Andrejak, Dany Baud, Philippe Bonniaud, Pierre-Yves Brillet, Alain Calender, Lara Chalabreysse, Isabelle Court-Fortune, Nicolas Pierre Desbaillets, Gilbert Ferretti, Anne Guillemot, Laurane Hardelin, Marianne Kambouchner, Violette Leclerc, Mathieu Lederlin, Marie-Claire Malinge, Alain Mancel, Sylvain Marchand-Adam, Jean-Michel Maury, Jean-Marc Naccache, Mouhamad Nasser, Hilario Nunes, Gaële Pagnoux, Grégoire Prévot, Christine Rousset-Jablonski, Olivier Rouviere, Salim Si-Mohamed, Renaud Touraine, Julie Traclet, Ségolène Turquier, Stéphane Vagnarelli, Kaïs Ahmad, Infections Virales et Pathologie Comparée - UMR 754 (IVPC), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Assistance Publique - Hôpitaux de Marseille (APHM), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Plateforme F-CRIN, Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), UFR SMBH-Université Sorbonne Paris Nord, Hôpital Avicenne [AP-HP], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Amiens-Picardie, Agents infectieux, résistance et chimiothérapie - UR UPJV 4294 (AGIR ), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, EA3920 University of Burgundy Franche-Comté Besançon, Equipe CADIR (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Centre pour l'innovation en cancérologie de Lyon (CICLY), Université de Lyon-Université de Lyon, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), and Centre Hospitalier Universitaire [Grenoble] (CHU)
Subjects: Pulmonary and Respiratory Medicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; BackgroundThe present article is an English-language version of the French National Diagnostic and Care Protocol, a pragmatic tool to optimize and harmonize the diagnosis, care pathway, management and follow-up of lymphangioleiomyomatosis in France.MethodsPractical recommendations were developed in accordance with the method for developing a National Diagnosis and Care Protocol for rare diseases of the Haute Autorité de Santé and following international guidelines and literature on lymphangioleiomyomatosis. It was developed by a multidisciplinary group, with the help of patient representatives and of RespiFIL, the rare disease network on respiratory diseases.ResultsLymphangioleiomyomatosis is a rare lung disease characterised by a proliferation of smooth muscle cells that leads to the formation of multiple lung cysts. It occurs sporadically or as part of a genetic disease called tuberous sclerosis complex (TSC). The document addresses multiple aspects of the disease, to guide the clinicians regarding when to suspect a diagnosis of lymphangioleiomyomatosis, what to do in case of recurrent pneumothorax or angiomyolipomas, what investigations are needed to make the diagnosis of lymphangioleiomyomatosis, what the diagnostic criteria are for lymphangioleiomyomatosis, what the principles of management are, and how follow-up can be organised. Recommendations are made regarding the use of pharmaceutical specialties and treatment other than medications.ConclusionThese recommendations are intended to guide the diagnosis and practical management of pulmonary lymphangioleiomyomatosis.
Published: 2023

10. Cyclophosphamide added to glucocorticoids in acute exacerbation of idiopathic pulmonary fibrosis (EXAFIP): a randomised, double-blind, placebo-controlled, phase 3 trial

Author: Abdellatif Tazi, Aurélie Le Borgne-Krams, Marine Cachanado, Tabassome Simon, Sylvain Marchand-Adam, Morgane Didier, Lidwine Wemeau-Stervinou, Sandrine Hirschi, Frédéric Rivière, Arnaud Bourdin, François Lebargy, Stéphane Dominique, Aude Gibelin, Alexandre Chabrol, Tristan Dégot, Jacques Cadranel, Martine Reynaud-Gaubert, Marie-Pierre Debray, Sylvie Leroy, Frédéric Gagnadoux, Emmanuel Bergot, François-Xavier Blanc, Alexandra Rousseau, Raphael Borie, Pierre Yves Brillet, Guillaume Beltramo, Mallorie Kerjouan, Hilario Nunes, Olivia Freynet, Julie Traclet, Bruno Crestani, Anne-Sophie Gamez, Grégoire Prévot, Jean Pastré, Dominique Israel-Biet, Marie-Christine Dombret, Laurent Plantier, Cécile Chenivesse, Laurence Berard, Ana Nieves, Emmanuel Gomez, Dominique Valeyre, Stéphane Jouneau, Anne Gondouin, Elodie Blanchard, C. Launois, Nathalie Bautin, Jean-Marc Naccache, Vincent Cottin, Antoine Parrot, Philippe Bonniaud, Centre de référence maladies rares des maladies pulmonaires rares de l’adulte (CHU Dijon) (CRMR des maladies pulmonaires rares de l’adulte), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Sorbonne Université (SU), Centre hospitalier Saint-Joseph [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Foch [Suresnes], CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital Avicenne [AP-HP], Laboratoire d'Excellence INFLAMEX [Paris], Université Sorbonne Paris Cité (USPC), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AP-HP - Hôpital Bichat - Claude Bernard [Paris], CHU Saint-Antoine [AP-HP], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre régional de pharmacovigilance de Marseille Provence Corse [CHU de Marseille] (CRPV-Marseille), Assistance Publique - Hôpitaux de Marseille (APHM)-CHU Marseille, CHU Dijon, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Les Hôpitaux Universitaires de Strasbourg (HUS), Nouvel Hôpital Civil de Strasbourg, Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Lille, Hôpital Albert Calmette, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Référence des Maladies Pulmonaires Rares [Hôpital Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Hospices Civils de Lyon (HCL), Université de Lyon, CIC CHU Lyon (inserm), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université Côte d'Azur (UCA), Centre Hospitalier Universitaire de Nice (CHU Nice), Université d'Angers (UA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital d'instruction des Armées Percy, Service de Santé des Armées, Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital JeanMinjoz, CHU Bordeaux [Bordeaux], Hôpital Haut-Lévêque [CHU Bordeaux], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Rouen, Normandie Université (NU), CHU Tenon [AP-HP], Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Recherche Saint-Louis - Hématologie Immunologie Oncologie (Département de recherche de l’UFR de médecine, ex- Institut Universitaire Hématologie-IUH) (IRSL), Université Paris Cité (UPCité), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), CHU Montpellier, Université de Lille, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP), Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204 (CIIL), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Roche, Ministere de la Sante et des Solidarites, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CHU Marseille-Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital Larrey [Toulouse], CHU Toulouse [Toulouse], Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Paris (UP), Centre National de la Recherche Scientifique (CNRS)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, education.field_of_study, Exacerbation, Cyclophosphamide, business.industry, [SDV]Life Sciences [q-bio], Population, medicine.disease, Placebo, 3. Good health, 03 medical and health sciences, Idiopathic pulmonary fibrosis, 0302 clinical medicine, 030228 respiratory system, Methylprednisolone, Internal medicine, Clinical endpoint, Medicine, 030212 general & internal medicine, business, education, Adverse effect, ComputingMilieux_MISCELLANEOUS, medicine.drug
Abstract: Summary Background The use of cyclophosphamide in patients with acute exacerbation of idiopathic pulmonary fibrosis (IPF) is unknown. Our study was designed to evaluate the efficacy and safety of four cyclophosphamide pulses in addition to high-dose methylprednisolone in this population. Methods In this double-blind, placebo-controlled trial done in 35 departments across 31 hospitals in France, adult patients (≥18 years) with acute exacerbation of IPF and those with suspected acute exacerbation of IPF were randomly assigned in a 1:1 ratio using a web-based system to receive either intravenous pulses of cyclophosphamide (600 mg/m2) plus uromitexan as haemorrhagic cystitis prophylaxis (200 mg/m2) at the time of cyclophosphamide administration and then again, 4 h later, or placebo at days 0, 15, 30, and 60. Random assignment was stratified according to the severity of IPF and was block-balanced with variable block sizes of four or six patients. Patients receiving mechanical ventilation, with active infection, with active cancer, or who were registered on the lung transplant waiting list were excluded. All patients received standardised high-dose glucocorticoids. The investigators, patients, and the sponsor were masked to the treatment assignments. The primary endpoint was 3-month all-cause mortality, analysed by a χ2 test adhering to an intention-to-treat principle. The trial is now complete and registered with ClinicalTrials.gov , NCT02460588 . Findings Between Jan 22, 2016, and July 19, 2018, 183 patients were assessed for eligibility, of whom 120 patients were randomly assigned and 119 patients (62 [52%] with severe IPF) received at least one dose of cyclophosphamide (n=60) or placebo (n=59), all of whom were included in the intention-to-treat analysis. The 3-month all-cause mortality was 45% (27/60) in patients given cyclophosphamide compared with 31% (18/59) in the placebo group (difference 14·5% [95% CI −3·1 to 31·6]; p=0·10). Similar results were found after adjustment by IPF severity (odds ratio [OR] 1·89 [95% CI 0·89–4·04]). The risk of death at 3 months, independent of the treatment received, was higher with severe than non-severe IPF (OR 2·62 [1·12–6·12]) and was lower with the use of antifibrotic therapy (OR 0·33 [0·13–0·82]). Adverse events were similar between groups by 6 months (25 [42%] in the cyclophosphamide group vs 30 [51%] in the placebo group) and their proportion, including infections, did not differ. Overall infection was the main adverse event and occurred in 20 (33%) of 60 patients in the cyclophosphamide group versus 21 (36%) of 59 patients in the placebo group. Interpretation In patients with acute exacerbation of IPF, adding intravenous cyclophosphamide pulses to glucocorticoids increased 3-month mortality. These findings provide evidence against the use of intravenous cyclophosphamide in such patients. Funding Programme Hospitalier de Recherche Clinique of the French Ministry of Health (PHRC 2014–502), Roche Pharmaceuticals.
Published: 2022

11. Filamin A Mutations

Author: Victor Valentin, Thomas Smol, J.F. Bervar, Olivier Le Rouzic, Martine Remy, Cécile Chenivesse, Lidwine Wemeau, and Catherine Vincent-Delorme
Subjects: Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, Mutation, Lung, business.industry, Connective tissue, respiratory system, Critical Care and Intensive Care Medicine, Filamin, medicine.disease_cause, respiratory tract diseases, medicine.anatomical_structure, medicine, FLNA, Respiratory system, Risk factor, Cardiology and Cardiovascular Medicine, business, Vascular tissue
Abstract: Emphysema is a chronic respiratory disorder characterized by destruction of alveoli, usually due to cigarette smoking or exposure to noxious particles or gases. Dysfunction of proteins that are involved in lung development and maintenance, such as alpha-1 antitrypsin, also contributes to emphysema. Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton reorganization. Mutations in the FLNA gene classically lead to abnormal neuronal migration and connective and vascular tissue anomalies. Pulmonary manifestations consist of a wide range of pulmonary disorders that occur during infancy. We report the first familial case of emphysema in non- and very low-smoking adults who carry a loss-of-function mutation of the FLNA gene. The identification of this new risk factor for emphysema encourages (1) screening, prevention and monitoring of pulmonary disorders in patients with FLNA mutation and (2) screening for FLNA mutation in patients with early-onset emphysema that is associated with low-smoking or vascular or connective tissue anomalies.
Published: 2021

12. Impact of Gender on the Characteristics of Patients with Idiopathic Pulmonary Fibrosis Included in the RaDiCo-ILD Cohort

Author: Sandrine Hirschi, Sonia Gueguen, M. Chevereau, Serge Amselem, Anne-Sophie Gamez, Martine Reynaud-Gaubert, Philippe Bonniaud, Dominique Israel-Biet, Annick Clement, I. Dufaure-Garé, Sylvain Marchand-Adam, Lidwine Wemeau-Stervinou, David Montani, Vincent Cottin, Jacques Cadranel, Hilario Nunes, Sébastien Quétant, Bruno Crestani, Stéphane Jouneau, Infections Virales et Pathologie Comparée - UMR 754 (IVPC), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hospices Civils de Lyon (HCL), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), UFR SMBH-Université Sorbonne Paris Nord, Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Hôpital Claude Huriez [Lille], CHU Lille, Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Thorax et Vaisseaux [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Strasbourg, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hôpital Lapeyronie [Montpellier] (CHU), CHU Trousseau [APHP], French National Research Agency under the 'cohorts' programme of the Investissements d'Avenir (Investments for the Future) French National Research Agency (ANR) [ANR-10-COHO-0003], ANR-10-COHO-0003,RADICO,Cohorte nationale maladies rares(2010), École pratique des hautes études (EPHE), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Constitutif de Référence des Maladies Pulmonaires Rares [AP-HP Tenon], Centre national de référence des maladies pulmonaires rares [Lyon] (CRMPM)-Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Centre national de référence des maladies pulmonaires rares [Lyon] (CRMPM)-Service de Pneumologie = Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Tenon [AP-HP], UF de Génétique moléculaire [CHU Trousseau], Centre de référence national pour les maladies respiratoires rares de l’enfant RespiRare [CHU Trousseau], Service de Pneumologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Chard-Hutchinson, Xavier, and Cohortes - Cohorte nationale maladies rares - - RADICO2010 - ANR-10-COHO-0003 - COHO - VALID
Subjects: Pulmonary and Respiratory Medicine, Male, medicine.medical_specialty, Vital capacity, Registry, [SDV]Life Sciences [q-bio], Idiopathic pulmonary fibrosis, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Pulmonary function testing, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Internal medicine, medicine, Humans, 030212 general & internal medicine, Honeycombing, Idiopathic interstitial pneumonia, 10. No inequality, Emphysema, Patient characteristics, business.industry, Interstitial lung disease, Gender, respiratory system, medicine.disease, Confidence interval, 3. Good health, respiratory tract diseases, [SDV] Life Sciences [q-bio], 030228 respiratory system, Cohort, Quality of Life, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Female, France, business, Lung Diseases, Interstitial
Abstract: Background: There is growing evidence of gender-specific phenotypic differences among patients with idiopathic pulmonary fibrosis (IPF), which may affect patient outcomes. Objectives: We present the characteristics of patients with IPF at inclusion in the French Rare Disease Cohort – Interstitial Lung Disease (RaDiCo-ILD) with the aim of characterizing gender-specific phenotypic differences. Methods: Patients with IPF who were enrolled in the national, multicentre RaDiCo-ILD cohort were included. Demographic characteristics, comorbidities, health-related quality of life (HRQoL) scores, pulmonary function, chest imaging, and IPF treatment were collected at inclusion and described by gender. Results: The cohort included 724 patients with IPF (54% of RaDiCo-ILD cohort), of whom 82.9% were male. The proportion of male and female patients with a prior history of smoking was 75.0% and 26.8%, respectively. Emphysema was present in 17.0% (95% confidence interval [CI]: 10.0, 24.0) of men and 5.4% (95% CI: 1.2, 9.6) of women. At inclusion, females had poorer HRQoL than males based on St. George’s Respiratory Questionnaire scores (48.5 [95% CI: 43.9, 53.0] and 41.5 [39.4, 43.6], respectively). The mean forced vital capacity per cent predicted was 77.7% (95% CI: 76.2, 79.3) and 87.4% (83.4, 91.4) for males and females, respectively. Honeycombing on high-resolution computed tomography (HRCT) was present in 70.8% (95% CI: 61.0, 80.6) of males and 45.8% (95% CI: 35.1, 56.5) of females. Conclusions: This analysis of patients with IPF at inclusion in the RaDiCo-ILD cohort provides evidence that comorbid emphysema, lung volume reduction, and honeycombing on HRCT are more common characteristics of males than females.
Published: 2022

13. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Author: Ralph Epaud, Serge Amselem, Philippe Bonniaud, Clairelyne Dupin, Aurélie Plessier, Annick Clement, Vincent Cottin, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Bunel, Diane Bouvry, Marie Pierre Debray, Caroline Kannengiesser, Aurélie Cazes, Bruno Crestani, Marie Legendre, Raphael Borie, Ibrahima Ba, Nadia Nathan, Philippe Dieudé, Elodie Lainey, Laurent Gouya, Pascale Fanen, Centre de Référence des Maladies Pulmonaires Rares [AP-HP Hôpital Bichat], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Centre de référence maladies rares des maladies pulmonaires rares de l’adulte (CHU Dijon) (CRMR des maladies pulmonaires rares de l’adulte), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital Avicenne [AP-HP], Centre de Référence des Maladies Pulmonaires Rares [AP-HP Bobigny], Centre de référence national pour les maladies respiratoires rares de l’enfant RespiRare [CHU Trousseau], Service de Pneumologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Centre des maladies respiratoires rares Respirare [CHI Créteil], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AP-HP Hôpital universitaire Robert-Debré [Paris], Hopital Saint-Louis [AP-HP] (AP-HP), Centre de compétences des maladies pulmonaires rares de l'adulte [CHU Lille] (CRMPR), Service de Pneumologie et Immuno-Allergologie [CHU LIlle], Pole Cardio-vasculaire et pulmonaire [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Pole Cardio-vasculaire et pulmonaire [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Pneumologie [Hôpital Louis Pradel – CHU Lyon] (Centre de Référence des Maladies Pulmonaires Rares), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-CHU Lyon, and Couvet, Sandrine
Subjects: Male, MESH: Familial, multidisciplinary discussion, Interstitial pulmonary fibrosis, Surfactant, TERT, Telomerase, Pulmonary Fibrosis, [SDV]Life Sciences [q-bio], lcsh:Medicine, Organ transplantation, 0302 clinical medicine, Pulmonary fibrosis, Pharmacology (medical), 030212 general & internal medicine, Child, Genetics (clinical), medicine.diagnostic_test, Interstitial lung disease, General Medicine, Middle Aged, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], Child, Preschool, Female, Familial, Adult, medicine.medical_specialty, Adolescent, Genetic counseling, MEDLINE, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Multidisciplinary team, Surface-Active Agents, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Testing, Intensive care medicine, Aged, Genetic testing, business.industry, Research, lcsh:R, Infant, medicine.disease, Human genetics, 030228 respiratory system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, RNA, business
Abstract: Background Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Because multidisciplinary discussion (MDD) has been shown to improve accuracy of interstitial lung disease (ILD) diagnosis, we evaluated the feasibility of a genetic MDD (geneMDD) dedicated to the indication for and interpretation of genetic testing. The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend. Results Since 2016, physicians from 34 different centers in 7 countries have participated in the geneMDD. The medical files of 95 patients (53 males) have been discussed. The median age of patients was 43 years [range 0–77], 10 were ≤ 15 years old, and 6 were deceased at the time of the discussion. Among 85 analyses available, the geneMDD considered the rare gene variants pathogenic for 61: 37 variants in telomere-related genes, 23 variants in surfactant-related genes and 1 variant in MARS. Genetic counseling was offered for relatives of these patients. The geneMDD therapeutic proposals were as follows: antifibrotic drugs (n = 25), steroids or immunomodulatory therapy (n = 18), organ transplantation (n = 21), watch and wait (n = 21), or best supportive care (n = 4). Conclusion Our experience shows that a dedicated geneMDD is feasible regardless of a patient’s age and provides a unique opportunity to adapt patient management and therapy in this very rare condition.
Published: 2019

14. Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study

Author: Quentin, Philippot, Caroline, Kannengiesser, Marie Pierre, Debray, Clément, Gauvain, Ibrahima, Ba, Margherita, Vieri, Anne, Gondouin, Jean-Marc, Naccache, Martine, Reynaud-Gaubert, Yurdagul, Uzunhan, Benjamin, Bondue, Dominique, Israël-Biet, Philippe, Dieudé, Cécile, Fourrage, Elodie, Lainey, Effrosyne, Manali, Spyros, Papiris, Lidwine, Wemeau, Sandrine, Hirschi, Hervé, Mal, Hilario, Nunes, Frédéric, Schlemmer, Elodie, Blanchard, Fabian, Beier, Vincent, Cottin, Bruno, Crestani, and Raphaël, Borie
Subjects: Pulmonary and Respiratory Medicine, Exoribonucleases, Mutation, Humans, Lung Diseases, Interstitial, Idiopathic Pulmonary Fibrosis, Retrospective Studies
Abstract: Poly(A)-specific ribonuclease (PARN) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous PARN mutations.We performed a retrospective, observational, non-interventional study of patients with an ILD diagnosis and a pathogenic heterozygous PARN mutation followed up in a centre of the OrphaLung network.We included 31 patients (29 from 16 kindreds and two sporadic patients). The median age at ILD diagnosis was 59 years (range 54 to 63). In total, 23 (74%) patients had a smoking history and/or fibrogenic exposure. The pulmonary phenotypes were heterogenous, but the most frequent diagnosis was idiopathic pulmonary fibrosis (n = 12, 39%). Haematological abnormalities were identified in three patients and liver disease in two. In total, 21 patients received a specific treatment for ILD: steroids (n = 13), antifibrotic agents (n = 11), immunosuppressants (n = 5) and N-acetyl cysteine (n = 2). The median forced vital capacity decline for the whole sample was 256 ml/year (range -363 to -148). After a median follow-up of 32 months (range 18 to 66), 10 patients had died and six had undergone lung transplantation. The median transplantation-free survival was 54 months (95% CI 29 to ∞). Extra-pulmonary features were less frequent with PARN mutation than telomerase reverse transcriptase (TERT) or telomerase RNA component (TERC) mutation.IPF is common among individuals with PARN mutation, but other ILD subtypes may be observed.
Published: 2021

15. Idiopathic chronic obliterative bronchiolitis: a multicentric retrospective cohort

Author: Mouhamad Nasser, Yurdagül Uzunhan, Sandrine Hirschi, Stéphane Jouneau, François Lebargy, Aurélien Justet, Camille Taillé, Lidwine Wemeau, Victor Valentin, Raphael Borie, Benoit Godbert, Frédéric Gagnadoux, Laurent Guilleminault, Hilario Nunes, Sylvain Marchand-Adam, and Vincent Cottin
Subjects: Pediatrics, medicine.medical_specialty, business.industry, medicine, Retrospective cohort study, Chronic obliterative bronchiolitis, business
Published: 2021

16. Diffuse Pulmonary Non-Amyloid Light-Chain Deposition Disease: Phenotypes and Outcome

Author: Romain Lazor, Laurent Sohier, Vincent Cottin, Magali Colombat, Antoine Roux, Lidwine Wemeau, Anne Gondouin, François Lestelle, Salim Si-Mohamed, Pierre Rigaud, Yurdagul Uzunhan, Helene Morisse Pradier, David C. Rotzinger, Catherine Beigelman, Vincent Bunel, Grégoire Prévot, Martine Reynaud Gaubert, Mouham Nasser, Emmanuel Gomez, and Sandrine Hirschi
Subjects: Pathology, medicine.medical_specialty, Amyloid, business.industry, medicine, medicine.disease, business, Phenotype, Light chain deposition disease
Published: 2021

17. RCT Abstract - Cyclophosphamide added to glucocorticoids in acute exacerbation of idiopathic pulmonary fibrosis (EXAFIP): a randomized, double-blind, placebo-controlled, phase 3 trial

Author: Jean-Marc Naccache, Morgane Didier, Hilario Nunes, Julie Traclet, Olivia Freynet, Dominique Israel-Biet, Alexandre Chabrol, Arnaud Bourdin, Nathalie Bautin, Emmanuel Bergot, Grégoire Prévot, Jean Pastré, Sylvie Leroy, Philippe Bonniaud, Tristan Dégot, Frédéric Rivière, Raphael Borie, Cécile Chenivesse, Vincent Cottin, Lidwine Wemeau-Stervinou, Bruno Crestani, Martine Reynaud-Gaubert, Antoine Parrot, Dominique Valeyre, Marie-Christine Dombret, Malorie Kerjouan, Abdellatif Tazi, Anne Gondouin, Stéphane Jouneau, Elodie Blanchard, Sylvain Marchand-Adam, Sandrine Hirschi, C. Launois, Ana Nieves, Stéphane Dominique, François-Xavier Blanc, Jacques Cadranel, Marie-Pierre Debray, Anne-Sophie Gamez, Frédéric Gagnadoux, Marine Cachanado, Laurence Berard, Guillaume Beltramo, Tabassome Simon, Pierre-Yves Brillet, A. Gibelin, Emmanuel Gomez, Aurélie Le Borgne-Krams, François Lebargy, Alexandra Rousseau, and Laurent Plantier
Subjects: medicine.medical_specialty, Cyclophosphamide, Exacerbation, business.industry, medicine.disease, Placebo, Gastroenterology, law.invention, Double blind, Idiopathic pulmonary fibrosis, Randomized controlled trial, law, Internal medicine, Medicine, business, medicine.drug
Published: 2021

18. Épidémiologie et mortalité de la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde : données nationales du SNDS

Author: V. Vannier-Moreau, Sébastien Ottaviani, Bruno Crestani, R.M. Flipo, G. Desjeux, J. Zhuo, Lidwine Wemeau-Stervinou, P.A. Juge, Philippe Dieudé, and B. Bregman
Subjects: Rheumatology
Published: 2021

19. MUC5B promoter variant rs35705950 and rheumatoid arthritis associated interstitial lung disease survival and progression

Author: David A. Schwartz, Joanne J. van der Vis, Bruno Crestani, Marie-Christophe Boissier, Jan C. Grutters, Athina Trachalaki, Raphaël Porcher, Pierre-Antoine Juge, Thierry Schaeverbeke, Spyros Papiris, Nathalie Saidenberg-Kermanac’h, Catherine Boileau, Christophe Richez, Raphael Borie, Jorge Rojas-Serrano, Yurdagul Uzunhan, Theofanis Karageorgas, Montserrat I González-Pérez, Caroline Kannengiesser, Philippe Dieudé, Anna Jamnitski, Tracy J. Doyle, Leticia Kawano-Dourado, René-Marc Flipo, Dimitrios T. Boumpas, Enrique Ambrocio-Ortiz, Dominique Valeyre, Ramcés Falfán-Valencia, Ivette Buendía-Roldán, Joyce S. Lee, Joshua J. Solomon, Coline H.M. van Moorsel, Marie-Pierre Debray, Romain Garofoli, Paul J. Wolters, Lidwine Wemeau-Stervinou, Fabienne Louis-Sydney, Mayra Mejía, Katarina M. Antoniou, Effrosyni D. Manali, Prodromos Sidiropoulos, and Hilario Nunes
Subjects: Lung Diseases, Vital capacity, medicine.medical_specialty, Clinical Sciences, Rheumatoid Arthritis, Gastroenterology, Interstitial Lung Disease, MUC5B, Autoimmune Disease, Pulmonary function testing, Promoter Regions, Arthritis, Rheumatoid, Idiopathic pulmonary fibrosis, Rare Diseases, Rheumatology, Genetic, Interquartile range, Clinical Research, Internal medicine, Rheumatoid, medicine, Genetics, Humans, Risk factor, Promoter Regions, Genetic, Lung, Aged, Proportional hazards model, business.industry, Mortality rate, Arthritis, Inflammatory and immune system, Interstitial lung disease, respiratory system, medicine.disease, Mucin-5B, Idiopathic Pulmonary Fibrosis, respiratory tract diseases, Arthritis & Rheumatology, Anesthesiology and Pain Medicine, Respiratory, Public Health and Health Services, Female, business, Interstitial, Lung Diseases, Interstitial
Abstract: Background The major risk factor for idiopathic pulmonary fibrosis (IPF), MUC5B rs35705950, was found to be associated with rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Whilst the MUC5B rs35705950 T risk allele has been associated with better survival in IPF, its impact on RA-ILD prognosis remains to be determined. Our objective was to explore the influence of MUC5B rs35705950 on survival and progression in RA-ILD. Methods Through an international retrospective observational study, patients with RA-ILD were genotyped for the MUC5B rs35705950 variant and consecutive pulmonary function tests (PFTs) findings were collected. Longitudinal data up to a 10-year follow-up were considered and analyzed using mixed regression models. Proportional hazards and joint proportional hazards models were used to analyze the association of baseline and longitudinal variables with lung transplant-free survival. Significant progression of RA-ILD was defined as at least an absolute or relative 10% decline of forced vital capacity at 2 years from baseline. Results Out of 321 registered patients, 261 were included in the study: 139 women (53.3%), median age at RA-ILD diagnosis 65 years (interquartile range [IQR] 57 to 71), 151 ever smokers (59.2%). Median follow-up was 3.5 years (IQR 1.3 to 6.6). Mortality rate was 32% (95%CI 19 to 42) at 10 years. The MUC5B rs35705950 variant did not impact lung transplant-free survival (HR for the T risk allele carriers=1.26; 95%CI 0.61 to 2.62; P=0.53). Decline in pulmonary function at 2 years was not influenced by MUC5B rs35705950 (OR=0.95; 95%CI 0.44 to 2.05; P=0.89), irrespective of the HRCT pattern. Conclusion In this study, the MUC5B rs35705950 promoter variant did not influence transplant- free survival or decline in pulmonary function in patients with RA-ILD.
Published: 2021

20. Fatal Covid‐19 vasoplegic shock in a recipient few hours before double lung transplantation in high emergency

Author: Hervé Mal, Gaëlle Dauriat, Olaf Mercier, Delphine Deblauwe, Lidwine Wemeau, André Vincentelli, Vincent Bunel, Elie Fadel, Florent Laverdure, and Laura Filaire
Subjects: Transplantation, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Double Lung Transplantation, respiratory system, Virology, Infectious Diseases, Shock (circulatory), medicine, medicine.symptom, Letters to the Editor, business, Letter to the Editor
Abstract: SARS‐Cov2 outbreak has deeply impacted French lung transplant programs by the decreased number of lung donors, the scarcity of intensive care unit (ICU) beds and most importantly, the assumed worse prognosis of Covid‐19 in recipients during perioperative period. Despite no evidence has been published to suggest that lung transplant recipients were at high‐risk of acquiring the virus or developing severe Covid‐19, immunosuppression may worsen the prognosis of such infection in patient transplanted for end‐staged lung diseases.
Published: 2020

21. Efficacy and safety of rituximab in patients with chronic hypersensitivity pneumonitis (cHP): A retrospective, multicentric, observational study

Author: Sylvain Marchand-Adam, Pierre Rigaud, Bruno Crestani, Jean-Charles Dalphin, Sylvie Leroy, Dominique Israel-Biet, Raphael Borie, Lidwine Wemeau, Marion Ferreira, Vincent Cottin, Laurent Plantier, Sébastien Quétant, Centre d'Etude des Pathologies Respiratoires (CEPR), UMR 1100. Equipe 3 'Aérosolthérapie et biothérapies à visée respiratoire' (CEPR. Equipe 3), Centre d’Etude des Pathologies Respiratoires (CEPR), UMR 1100 (CEPR), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Lille, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut de pharmacologie moléculaire et cellulaire (IPMC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université Grenoble Alpes (UGA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Le Pennec, Deborah, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Pulmonary and Respiratory Medicine, Male, medicine.medical_specialty, Vital capacity, Time Factors, Vital Capacity, Gastroenterology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, DLCO, Internal medicine, Forced vital capacity, Pulmonary fibrosis, medicine, Humans, 030212 general & internal medicine, Respiratory system, Lung, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Retrospective cohort study, Middle Aged, respiratory system, medicine.disease, 3. Good health, Treatment Outcome, 030228 respiratory system, Chronic Disease, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Rituximab, Female, Safety, business, Hypersensitivity pneumonitis, medicine.drug, Alveolitis, Extrinsic Allergic
Abstract: International audience; Background: There are chronic forms of hypersensitivity pneumonitis (cHP) that can progress to pulmonary fibrosis. There is no recommended treatment for patients whose respiratory condition continues to deteriorate in spite of antigen avoidance. Whether rituximab may be beneficial to patients with cHP is unknown. The aim of this study was to describe the course of 20 patients with cHP under rituximab therapy.Methods: This retrospective study was conducted from November 2018 to July 2019 in 7 French university hospitals. Forced Vital Capacity (FVC) was measured 6 months before rituximab therapy onset (M - 6), at rituximab onset (M0), and 6 months later (M+6).Results: FVC decreased significantly in the 6 months preceding the introduction of rituximab (65% [44; 112%] at M - 6 versus 59% [39; 102%] at M0; p = 0.0001), but it did not differ significantly from that at 6 months after the introduction of rituximab (61% [38; 99%]). The decline in FVC between M0 and M+6 (-3% [-15; +19%]) was significantly less than between M - 6 and M0 (-8% [-21; 0%]) (p = 0.0002). Between M0 (37% [16; 73%]) and M + 6 (45% [15; 70%]), the median DLCO remained stable (p = 0.12). DLCO improved at M+6 in 5 of the 8 patients (63%) for whom a DLCO value was available at M+6 improved their DLCO.Conclusion: Rituximab seems well tolerated, and may lead to stabilization or improvement of lung function in some patients.
Published: 2020

22. Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: a multicentric retrospective cohort study

Author: Bruno Crestani, Matthieu Rigaud, Dominique Israel Biet, Quentin Philippot, Hervé Mal, Benjamin Bondue, Spyros Papiris, Anne Gondouin, Jean-Marc Naccache, Yurdagul Uzunhan, Martine Reynaud-Gobert, Vincent Cottin, Lidwine Wemeau, Caroline Kannengiesser, Raphael Borie, Frédéric Schlemmer, Sandrine Hirschi, Hilario Nunes, Effrosyne Manali, and Ibrahima Ba
Subjects: medicine.medical_specialty, education.field_of_study, Genetic heterogeneity, business.industry, medicine.medical_treatment, Population, Interstitial lung disease, Retrospective cohort study, respiratory system, medicine.disease, Gastroenterology, respiratory tract diseases, Idiopathic pulmonary fibrosis, FEV1/FVC ratio, Internal medicine, Pulmonary fibrosis, medicine, Lung transplantation, business, education
Abstract: Poly(A)-specific ribonuclease (PARN) mutations have been associated with familial pulmonary fibrosis. However, the phenotype of patients with interstitial lung disease (ILD) and PARN mutations is poorly described. We performed a retrospective, observational, non-interventional study. All the patients with an ILD diagnosis and a pathogenic heterozygous PARN mutation, followed in one of the OrphaLung center, were included. We included 30 patients (24 patients from 11 kindreds and 6 sporadic patients with early onset of ILD or extra-pulmonary phenotype). The median age at diagnosis of ILD was 59 years (range 54 - 64). Twenty-three patients (77 %) had a smoking history and/or a fibrogenic exposure. The pulmonary phenotypes were heterogenous but the most frequent diagnosis was idiopathic pulmonary fibrosis (IPF; n=15, 50%). Hematological abnormalities were identified in 3 patients and liver disease in 2 patients. Twenty-one patients received a specific treatment for ILD: steroids (n=13), antifibrotic (n= 11), immunosuppressants (n=5) and N-acetyl cysteine (n=2). The median decline of FVC for the whole population was 292 ml/year (range 146 - 657). After a median follow-up of 2.8 years 8 patients had died and 6 had undergone lung transplantation. The median transplantation-free survival was 4.5 years. PARN mutation carriers were older, and extra-pulmonary manifestations were less frequent as compared to TERT or TERC mutation carriers. PARN mutations are most frequently associated with IPF, but other ILD may be observed. Such phenotypic heterogeneity requires a thorough evaluation of PARN-associated ILD patients in order to define tailored therapeutic strategies.
Published: 2020

23. Characteristics and management of patients with idiopathic pulmonary fibrosis treated with pirfenidone capsule or tablet formulation

Author: Dominique Israel-Biet, Sonia Gueguen, M. Chevereau, Lidwine Wemeau, Annick Clement, I. Dufaure-Garé, Bruno Crestani, Vincent Cottin, Serge Amselem, Stéphane Jouneau, Hilario Nunes, and Philippe Bonniaud
Subjects: Idiopathic pulmonary fibrosis, medicine.medical_specialty, business.industry, Internal medicine, medicine, Capsule, Pirfenidone, medicine.disease, business, Gastroenterology, medicine.drug
Published: 2020

24. Filamin A Mutations: A New Cause of Unexplained Emphysema in Adults?

Author: Victor, Valentin, Jean-François, Bervar, Catherine, Vincent-Delorme, Thomas, Smol, Lidwine, Wemeau, Martine, Remy, Olivier, Le Rouzic, and Cécile, Chenivesse
Subjects: Adult, Filamins, Non-Smokers, Pedigree, Periventricular Nodular Heterotopia, Pulmonary Emphysema, Loss of Function Mutation, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Medical History Taking, Tomography, X-Ray Computed, Lung, Aged
Abstract: Emphysema is a chronic respiratory disorder characterized by destruction of alveoli, usually due to cigarette smoking or exposure to noxious particles or gases. Dysfunction of proteins that are involved in lung development and maintenance, such as alpha-1 antitrypsin, also contributes to emphysema. Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton reorganization. Mutations in the FLNA gene classically lead to abnormal neuronal migration and connective and vascular tissue anomalies. Pulmonary manifestations consist of a wide range of pulmonary disorders that occur during infancy. We report the first familial case of emphysema in non- and very low-smoking adults who carry a loss-of-function mutation of the FLNA gene. The identification of this new risk factor for emphysema encourages (1) screening, prevention and monitoring of pulmonary disorders in patients with FLNA mutation and (2) screening for FLNA mutation in patients with early-onset emphysema that is associated with low-smoking or vascular or connective tissue anomalies.
Published: 2020

25. Demographics and Baseline Characteristics of Patients with Idiopathic Pulmonary Fibrosis (IPF) in a Real-World Setting: Results of 847 Patients Enrolled in the Radico-ILD Cohort in France

Author: Hilario Nunes, A. Clément, Sylvain Marchand-Adam, J.-M. Naccache, Dominique Israel-Biet, S. Jouneau, I. Dufaure-Garé, Martine Reynaud-Gaubert, RaDiCo-ILD, P. Bonniaud, Sandrine Hirschi, Sébastien Quétant, Lidwine Wemeau, M. Chevereau, Bruno Crestani, David Montani, Vincent Cottin, and J.-C. Dalphin
Subjects: medicine.medical_specialty, Idiopathic pulmonary fibrosis, Demographics, business.industry, Baseline characteristics, Internal medicine, Cohort, medicine, medicine.disease, business
Published: 2020

26. Evaluation of Efficacy and Safety of Rituximab in Hypersensitivity Pneumonitis (HP) Patients: A Retrospective Observational Study

Author: Vincent Cottin, J.-C. Dalphin, Charles-Hugo Marquette, Dominique Israel-Biet, Lidwine Wemeau, M. Ferreira, Sébastien Quétant, B. Crestani, P. Rigaud, R. Borie, and S. Marchand-Adam
Subjects: medicine.medical_specialty, business.industry, Medicine, Rituximab, Retrospective cohort study, business, medicine.disease, Dermatology, Hypersensitivity pneumonitis, medicine.drug
Published: 2020

27. The 1-minute sit-to-stand test to evaluate quadriceps muscle strength in patients with interstitial lung disease

Author: Benoit Wallaert, Lidwine Wemeau, Cécile Chenivesse, Hélène Behal, Justine Briand, and Thierry Perez
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Exercise Tolerance, business.industry, Sit to stand test, Interstitial lung disease, medicine.disease, Quadriceps Muscle, Internal medicine, Pulmonary fibrosis, medicine, Muscle strength, Cardiology, Humans, In patient, Sarcoidosis, Muscle Strength, business, Lung Diseases, Interstitial, Quadriceps muscle strength
Published: 2020

28. Traitement de la fibrose pulmonaire idiopathique : un espoir pour les connectivites

Author: Lidwine Wemeau-Stervinou, Benoit Wallaert, and Cécile Chenivesse
Subjects: 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Rheumatology, 030212 general & internal medicine
Abstract: Resume Parmi toutes les formes de pneumopathies interstitielles diffuses, la fibrose pulmonaire idiopathique tient une place a part dans la pratique pneumologique, principalement du fait de la rapidite de son evolution conduisant au deces et de l’absence d’efficacite des traitements jusqu’a peu essayes. La definition de la fibrose pulmonaire idiopathique a ete considerablement remaniee au cours des vingt dernieres annees aboutissant a un diagnostic plus restreint et plus homogene ouvrant la voie a l’elaboration d’essais randomises d’excellente qualite methodologique. La strategie anti-inflammatoire et immunomodulatrice qui avait longtemps ete exploree s’est averee non seulement inefficace, mais parfois meme deletere dans cette maladie. Le developpement et la commercialisation en quelques annees de deux molecules antifibrotiques (la pirfenidone et le nintedanib) qui permettent de ralentir le declin de la fonction respiratoire representent un pas en avant. Certaines pneumopathies interstitielles diffuses associees aux connectivites partagent de nombreux traits communs avec la fibrose pulmonaire idiopathique et certains patients ne repondent pas aux traitements immunosuppresseurs classiquement efficaces. Ces nouvelles voies therapeutiques representent des axes de recherche pertinents pour ces situations.
Published: 2018

29. Caractéristiques et prise en charge des patients atteints de fibrose pulmonaire idiopathique traités par la pirfénidone sous forme de gélules ou de comprimés : cohorte RaDiCo-PID

Author: I. Dufaure-Garé, Sonia Gueguen, M. Chevereau, A. Clément, Stéphane Jouneau, Vincent Cottin, Bruno Crestani, Philippe Bonniaud, Hilario Nunes, Dominique Israel-Biet, S. Amselem, and Lidwine Wemeau
Subjects: Pulmonary and Respiratory Medicine
Abstract: Introduction La pirfenidone, indiquee dans le traitement de la fibrose pulmonaire idiopathique (FPI), est desormais disponible sous forme de comprimes (nouvelle formulation disponible le 1er avril 2018) ou de gelules. L’objectif de cette etude est de decrire la tolerance, les arrets de traitement et le taux de substitution entre les deux formulations (gelules/comprimes) en France. Methodes Une analyse retrospective de donnees issues de la cohorte RaDiCo-PID (Rare Disease Cohorts — Pneumopathies Interstitielles Diffuses), financee par l’ANR (Agence Nationale de la Recherche) et geree en utilisant l’application REDCap, chez des patients (pts) atteints de FPI ayant recu au moins une dose de pirfenidone (1 juillet 2017–30 juin 2019) a ete realisee. Resultats Parmi les 288 pts traites par la pirfenidone, 162 l’avaient nouvellement initiee sur la periode d’observation. Dans la population des patients traites par la pirfenidone pendant la periode de substitution, apres le 1er avril 2018 (n = 256), les caracteristiques des patients (sexe, âge a l’inclusion/au diagnostic) par type de formulation etaient homogenes. Au total, 44,9 % (IC95 % : 38,8–51,0) des patients sont passes de la gelule au comprime et 4,7 % (IC95 % : 2,10–7,28) du comprime a la gelule. Dans l’ensemble, la duree moyenne du traitement a ete de 21,5 mois (±18,7) et la mediane (Q1 ; Q3) de 16,2 mois [6,3 ; 29,3] avec une dose moyenne de 2106,7 (±460,7) mg/jour. Pres de la moitie des patients (119/256, 46,5 %) ont definitivement arrete le traitement, pour intolerance (81/119 pts, 68,1 %) ou inefficacite (21/119 pts, 10,1 %). Le taux d’arrets de traitement definitifs etait de 36,1 % (IC95 % : 27,5–44,8) dans le groupe « substitution », 45,8 % (IC95 % : 36,9–54,8) dans le groupe « comprimes » et 60,7 % (IC95 % : 51,9–69,5) dans le groupe « gelules uniquement ». Le temps median jusqu’a l’arret de la pirfenidone dans les 3 groupes est presente dans la Fig. 1 . Des evenements indesirables ont ete rapportes chez 112 patients (39 %) dont des evenements indesirables graves (hospitalisations) chez 5 patients (4,9 %). Conclusion Cette etude presente des donnees de vie reelle chez des patients atteints de FPI traites par une seule formulation de la pirfenidone ou ayant eu une substitution entre les deux formulations (gelules ou comprimes). Ces observations suggerent une bonne tolerance de la formulation « comprimes » avec moins d’arrets de traitements et une duree de traitement plus longue par rapport aux gelules.
Published: 2021

30. Évolution des symptômes respiratoires sous traitement anti-fibrotique dans la fibrose pulmonaire idiopathique : une étude exploratoire

Author: N. Bautin, Lidwine Wemeau-Stervinou, C. Rémy, V. Valentin, Tamara Alonso Pérez, and Cécile Chenivesse
Subjects: Pulmonary and Respiratory Medicine
Abstract: Introduction La fibrose pulmonaire idiopathique (FPI) a pour principaux symptomes la dyspnee et la toux qui alterent la qualite de vie. Les traitements anti-fibrotiques permettent de ralentir l’evolution de la maladie mais leurs effets sur la symptomatologie n’ont pas ete evalues. L’objectif de cette etude exploratoire etait de decrire l’evolution de la dyspnee, de la toux et de la qualite de vie a 3 et 6 mois de l’introduction d’un traitement anti-fibrotique. Methodes Nous avons mene une etude prospective au centre hospitalier universitaire de Lille chez des patients presentant une FPI de diagnostic recent avec instauration d’un traitement anti-fibrotique. Nous avons mesure, a l’aide de questionnaires, la dyspnee (EVA, Borg, Multidimensional Dyspnea Profile MDP, mMRC, BDI/TDI), la toux (EVA, Leicester Cough Questionnaire [LCQ]) et la qualite de vie (HAD, K-BILD) a l’introduction du traitement, a 3 mois et a 6 mois. Resultats Douze patients ont ete inclus. La dyspnee de repos (EVA) et d’effort (Borg au test de marche de 6 minutes) etaient des symptomes frequents a l’etat de base (33 % et 75 %) et semblaient stables apres 3 et 6 mois de traitement. L’intensite de la dyspnee etait notable au cours des efforts de la vie quotidienne et se majorait a 3 mois (MDP-QS : +3 points, DIQ [0–4], p = 0,055). L’impact de la dyspnee qui etait majeur sur l’activite physique (mMRC ≥ 2 chez 42 % des patients et BDI a 6) et sur la qualite de vie (K-BILD a 64,5 % dont dimension dyspnee et activite a 58,3 %) persistait a 3 et a 6 mois. La toux etait frequente (67 %) avec un impact leger sur la qualite de vie (LCQ a 15,3, DIQ [13,2–19,3]) et n’evoluait pas a 3 et 6 mois. La symptomatologie depressive (HAD-D) semblait s’aggraver a 3 mois (+1,5 points ; DIQ [0–4] ; p = 0,047) et persistait a 6 mois. Les effets indesirables des traitements anti-fibrotiques etaient frequents (50 % a 3 mois et 71 % a 6 mois) avec notamment un amaigrissement significatif a 6 mois (−4 kg ; DIQ [−4 a −3] ; p = 0,016). Conclusion Ces donnees exploratoires suggerent l’absence d’amelioration de la dyspnee et de la toux dans la FPI sous traitement anti-fibrotique et donc l’interet d’une prise en charge specifique symptomatique precoce. Par ailleurs, elles mettent en evidence l’interet du questionnaire MDP par rapport aux questionnaires existants pour juger de l’evolution de la dyspnee au cours de la FPI.
Published: 2021

31. Changes in the physical and affective dimensions of dyspnoea after a home-based pulmonary rehabilitation in fibrotic idiopathic interstitial pneumonias

Author: Cécile Chenivesse, Sarah Gephine, Martin Dornbierer, Victor Valentin, Olivier Le Rouzic, Lidwine Wémeau, and Jean-Marie Grosbois
Subjects: Medicine
Abstract: Background Our objective was to evaluate the short-, medium- and long-term benefits of home-based pulmonary rehabilitation (PR) on the physical and affective components of dyspnoea in people with fibrotic idiopathic interstitial pneumonias (f-IIPs). Anxiety and depressive symptoms, fatigue, health-related quality of life and exercise tolerance were also assessed. Methods Data on 166 individuals with f-IIPs who enrolled in an 8-week home-based PR programme (weekly supervised 90-min session) were retrospectively analysed. Assessments included the Dyspnoea-12 (D-12) questionnaire, Hospital Anxiety and Depression Scale, Fatigue Assessment Scale, Visual Simplified Respiratory Questionnaire and 6-min stepper test, and were performed at home at short, medium (6 months) and long (12 months) term. Results Among the 166 individuals with f-IIPs who enrolled in PR, 75 (45%) and 91 (55%) participants had a diagnosis of idiopathic pulmonary fibrosis and fibrosing non-specific interstitial pneumonia, respectively, and 87 (52%) participants concluded a full year of follow-up. In the total group, both physical and affective components of dyspnoea were improved, at short, medium and long term, after PR. Overall, half of the participants reached the minimally important difference of 3 points of the D-12 questionnaire at the end of PR, and at the 6- and 12-month follow-ups. Anxiety and depressive symptoms, fatigue and health-related quality of life were also improved, while the short-term benefits in exercise tolerance were not maintained 1 year after PR. Conclusion An individualised home-based PR programme resulted in short-, medium- and long-term improvements in both physical and affective components of dyspnoea assessed by the D-12 questionnaire.
Published: 2024
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32. Fibrose pulmonaire idiopathique au sein de la cohorte RaDiCo-PID

Author: Serge Amselem, Annick Clement, I. Dufaure-Garé, Lidwine Wemeau, Bruno Crestani, Philippe Bonniaud, Hilario Nunes, Stéphane Jouneau, Vincent Cottin, Dominique Israël-Biet, Sonia Gueguen, and M. Chevereau
Subjects: 03 medical and health sciences, Epidemiology, Public Health, Environmental and Occupational Health, 030501 epidemiology, 0305 other medical science
Abstract: Introduction RaDiCo est un programme national du Plan d’investissement d’Avenir, developpe a l’Inserm U933, soutenu par l’ANR, et dedie a la construction et a l’analyse de cohortes de patients atteints de maladies rares [1] . Depuis 2015, en partenariat avec les centres de competences, de References et les filieres dediees aux pathologies hebergees, RaDiCo construit, enrichit et analyse des collections de donnees en vie reelle. Parmi les 13 cohortes RaDiCo longitudinales, RaDiCo-PID concerne les pneumopathies interstitielles diffuses (PID) de l’enfant et de l’adulte. Elle est active depuis 2017 avec entre autres objectifs, ameliorer le diagnostic et la prise en charge des patients. Niches dans cette cohorte, plusieurs projets de recherches specifiques relatifs a la fibrose pulmonaire idiopathique (FPI) (la plus frequente des PID) sont en cours. Cette affection est irreversible avec un envahissement fibreux du tissu pulmonaire apres 60 ans. Deux molecules anti-fibrosantes recommandees en ralentissent la progression [2] . Methode Criteres d’inclusion : patients âges de plus de 18 ans avec une FPI confirmee, depuis moins de trois ans avant l’inclusion (criteres internationaux ATS/ERS 2011 [3] ). Collecte des donnees anonymisees sur la plateforme Inserm RaDiCo, RGPD compatible, via REDcap, application web securisee avec une interface intuitive et controle qualite du circuit des donnees. Resultats Apres 2 ans d’inclusion, 1259 patients PID ont ete inclus dans 18 centres francais ( Fig. 1 ), 66 % sont des FPI ; 666 patients repondaient aux criteres d’inclusion dont 54 % de cas incidents (diagnostic Fig. 2 ) avec 82 % d’hommes, citadins (63 %), de 72 ± 9 ans. A l’inclusion, l’IMC moyen etait de 27 ± 4 kg/m2 ( Tableau 1 ), la CVF moyenne predite etait de 80 ± 19 % et la DLCO moyenne predite de 47 ± 17 % ( Tableau 2 ). A l’inclusion, 205 patients (31 %) ont ete traites par du nintedanib, 189 patients (29 %) par de la pirfenidone, 235 patients (35 %) n’etaient pas sous anti-fibrosant ( Tableau 3 ). Conclusion La cohorte RaDiCo-PID est tres active avec un grand nombre de patients inclus au debut de leur maladie ce qui va permettre de suivre leur progression. Les effectifs actuels permettent d’envisager des analyses plus approfondies sur des questions specifiques et non specifiques encore peu abordees.
Published: 2020

33. Pneumopathies interstitielles diffuses associées aux mutations de Poly(A)-specific ribonuclease (PARN) : une étude de cohorte rétrospective multicentrique

Author: Martine Reynaud-Gaubert, Hilario Nunes, Raphael Borie, Bruno Crestani, Q. Philippot, D. Israel Biet, Frédéric Schlemmer, Effrosyni D. Manali, Hervé Mal, Vincent Cottin, Benjamin Bondue, Spyros Papiris, Anne Gondouin, Caroline Kannengiesser, Jean-Marc Naccache, and Lidwine Wemeau
Subjects: Pulmonary and Respiratory Medicine
Abstract: Introduction Des mutations de Poly(A)-specific ribonuclease (PARN) ont ete associees a des cas familiaux de fibrose pulmonaire. Le phenotype des patients presentant une pneumopathie interstitielle diffuse (PID) et une mutation de PARN est cependant mal decrit. Methodes Nous avons realise une etude retrospective, observationnelle, non interventionnelle. Tous les patients avec une PID et une mutation de PARN, suivis dans les centres du reseau OrphaLung, ont ete inclus. Resultats Vingt patients, issus de 12 familles, ont ete inclus. L’âge median lors du diagnostic de PID etait de 58,8 ans (ecart interquartile [IQR] de 52,8 a 64,5 ans). Les diagnostics les plus frequents etaient : fibrose pulmonaire idiopathique (FPI ; n = 8 ; 40 %) et fibrose inclassable (n = 5 ; 12,5 %). L’hemogramme, disponible pour 17 patients, et le bilan hepatique, disponible pour 16 patients, etaient normaux. Treize patients ont recu un traitement specifique pour leur PID comme suit : corticoides (n = 8), anti-fibrosant (n = 6), immunosuppresseur (n = 2) et N-acetyl-cysteine (n = 1). Sept patients n’ont pas recu de traitement specifique. Aucun patient n’a presente une amelioration respiratoire (objectivee par des epreuves fonctionnelles respiratoires ou une diminution des besoins en oxygene). Le declin median de capacite vitale forcee, pour l’ensemble de la population, etait de 219 mL par an (IQR de −73 a −511). Apres un suivi median de 2,9 ans (IQR de 0,93 a 7,1), sept patients sont decedes et cinq patients ont ete transplantes. Conclusion Cette etude objective que les mutations de PARN sont le plus souvent associees avec une FPI, d’autres phenotypes peuvent neanmoins etre observes. Une telle heterogeneite phenotypique implique une evaluation complete des PID associees aux mutations de PARN afin de definir une strategie therapeutique adaptee.
Published: 2020

34. Données démographiques et caractéristiques au moment du diagnostic des 847 patients atteints de fibrose pulmonaire idiopathique inclus dans la cohorte Radico-PID

Author: Sandrine Hirschi, I. Dufaure-Garé, Lidwine Wemeau, Stéphane Jouneau, Jean-Marc Naccache, M. Chevereau, Bruno Crestani, Martine Reynaud-Gaubert, David Montani, Vincent Cottin, J.-C. Dalphin, Sylvain Marchand-Adam, Sébastien Quétant, Philippe Bonniaud, A. Clément, Dominique Israel-Biet, and Hilario Nunes
Subjects: Pulmonary and Respiratory Medicine
Abstract: Introduction La fibrose pulmonaire idiopathique (FPI) est une affection rare et peu de donnees epidemiologiques sont disponibles en France. Ce projet vise a decrire les caracteristiques en vie reelle des patients atteints de FPI recevant un traitement anti-fibrosant, ainsi que leurs comorbidites et la mortalite. Methodes RaDiCo-PID est une cohorte longitudinale a long terme incluant des patients enfants et adultes atteints de pneumopathies interstitielles diffuses (PID) idiopathiques suivis dans des centres de reference et de competence de la filiere Respifil et des reseaux OrphaLung et Respirare. RaDiCo-PID comporte un sous-groupe de patients atteints de FPI. Nous presentons ici les caracteristiques de base des patients atteints de FPI apres 2 ans d’inclusion. Resultats Entre le 15 juin 2017 et le 4 septembre 2019, 1246 patients atteints de pneumopathie interstitielle diffuse ont ete inclus dans le registre Radico-PID dans 18 centres, dont 847 atteints de FPI (68 %). Les patients atteints de FPI etaient en majorite des hommes (82,7 %), avec un âge moyen de 72,5 ± 9 ans a l’inclusion et un index de masse corporelle moyen de 26,8 ± 4,3. Parmi les patients avec FPI, 44,6 % etaient des cas incidents avec une duree mediane entre le diagnostic et l’inclusion de 8,9 mois (Q1 = 0,9 et Q3 = 26,4) ; 25,3 % de ces patients avaient eu une biopsie. La capacite vitale forcee moyenne au diagnostic etait de 73,4 ± 25,0 % de la valeur theorique (n = 561), et la capacite de transfert du monoxyde de carbone moyenne au diagnostic etait de 39,6 ± 18,2 % (n = 498). Selon les donnees disponibles sur les traitements anti-fibrosants (n = 661), 347 patients ont ete traites, au moins une fois, par du nintedanib et 312 patients par de la pirfenidone ; 113 patients ont recu sequentiellement ces 2 molecules. Conclusion La cohorte Radico-PID fournit des donnees concretes precieuses sur les caracteristiques demographiques des patients, notamment au moment du diagnostic de FPI. Les effectifs actuels permettent d’envisager des analyses plus approfondies.
Published: 2020

35. Clinical outcomes after lung transplantation for fibrosis in telomerase related genes mutation carriers

Author: Stéphane Jouneau, Sylvain Marchand Adam, Hilario Nunes, Jean-Marc Naccache, Jérôme Le Pavec, Martine Reynaud-Gaubert, Antoine Froidure, Aurélie Le Borgne, Christophe Pison, Bruno Crestani, Lidwine Wemeau-Stervinou, Raphael Borie, François Philit, Antoine Roux, Sandrine Hirschi, Hervé Mal, Vincent Cottin, Romain Lazor, Caroline Kannengiesser, Mathilde Phillips Houlbracq, Service de pneumologie B, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Department of Pneumology [Lyon], Hospices Civils de Lyon (HCL), Centre de Référence des Maladies Pulmonaires Rares [Hôpital Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de pneumologie (Strasbourg), CHU Strasbourg-Nouvel Hôpital Civil, Service de pneumologie. Centre de compétence des maladies pulmonaires rares, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de chirurgie thoracique et transplantation pulmonaire, Centre chirurgical Marie Lannelongue, Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Cliniques Universitaires Saint-Luc [Bruxelles], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Contaminants Chimiques, immunité et Inflammation, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), Université Paris 13 (UP13)-UFR SMBH, Hôpital Nord [CHU - APHM], Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et Epidemiologie de l'Insuffisance Respiratoire, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot, Sorbonne Paris Cité, Paris, France, Université Paris Diderot - Paris 7 (UPD7), Centre Chirurgical Marie Lannelongue (CCML), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA)
Subjects: medicine.medical_specialty, Cirrhosis, medicine.medical_treatment, Idiopathic pulmonary fibrosis, Neutropenia, Gastroenterology, Liver disease, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Median follow-up, Internal medicine, Pulmonary fibrosis, medicine, Transplantation pulmonaire, Lung transplantation, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Lung, business.industry, Fibrose pulmonaire, medicine.disease, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, medicine.anatomical_structure, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, business
Abstract: International audience; Carriers of telomerase related genes (TRG) mutation seem to present a worst prognosis with more common hematological complications after lung transplantation (LT) for pulmonary fibrosis. The aim of this study was to describe the outcomes after LT and identify pre-LT prognosis factors in a multicenter cohort of lung transplant recipients with TRG mutation.We retrospectively reviewed all identified patients with pathogenic TRG mutation (n=38; TERT, n=22, TERC, n=10, RTEL1, n=6) who received LT in France, Switzerland and Belgium between 2009 and 2018. The median age at LT was 54 years (46-59), 70% were male, and 60% had idiopathic pulmonary fibrosis (IPF). At diagnosis of pulmonary fibrosis, 84% had a hematological disease, including 8 with myelodysplasia, and 45% had a liver disease. After a median follow up of 2.2 years (1,2-3,7), 16 received a single LT, 22 a double LT and 2 a combined liver-LT.The overall post-LT median survival was 3.75 years (1.8-NA). Patients with myelodysplasia before LT had an increased risk of death after LT (HR= 4.12 (1.47-11.53) p=0.007). After LT, all patients showed anemia, 70% thrombocytopenia, and 60% neutropenia. Four patients showed severe liver disease: portal hypertension, cirrhosis. Sixteen patients (42%) experienced acute renal failure and 18 (47%) developed chronic renal insufficiency during follow up. Four developed chronic lung allograft dysfunction.Overall survival after LT supports LT in TRG mutation carriers. Careful evaluation at diagnosis, might limit LT indication for patients with established myelodysplasia.
Published: 2019

36. Long-term effects of pulmonary rehabilitation on daily life physical activity of patients with stage IV sarcoidosis: A randomized controlled trial

Author: Maeva Kyheng, Sandrine Stelianides, Benoit Wallaert, Lidwine Wemeau, Jean Marie Grosbois, Julien Labreuche, and University of Lille
Subjects: Pulmonary and Respiratory Medicine, Male, medicine.medical_specialty, Respiratory Therapy, medicine.medical_treatment, [SDV]Life Sciences [q-bio], law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, Patient Education as Topic, Sarcoidosis, Pulmonary, law, Behavior Therapy, Internal medicine, Activities of Daily Living, medicine, Humans, Pulmonary rehabilitation, 030212 general & internal medicine, Patient Reported Outcome Measures, Prospective cohort study, Exercise, Depression (differential diagnoses), Fatigue, Aged, Exercise Tolerance, business.industry, Psychosocial Support Systems, Middle Aged, Combined Modality Therapy, Confidence interval, 3. Good health, Exercise Therapy, Mood, Dyspnea, Treatment Outcome, 030228 respiratory system, Quality of Life, Anxiety, Female, medicine.symptom, business, Physical Conditioning, Human
Abstract: Introduction Pulmonary rehabilitation (PR) is known to improve exercise tolerance, mood, and quality of life in patients with chronic respiratory diseases. The aim of this work was to determine whether PR provides long-term benefits in increasing daily life physical activity in patients with chronic sarcoidosis. Methods This randomized prospective study (registered ClinicalTrials.gov NCT02044939 ) of 38 patients with stage IV chronic sarcoidosis was performed between 2012 and 2016. Patients were assigned to participate in a 2-month PR program (n = 20) or receive counseling (n = 18). Assessments were performed at baseline, 2 months (end of the PR program), 6 months, and 12 months, and included daily life physical activity parameters (measured for 5 consecutive days), exercise tolerance, dyspnea, anxiety, depression, fatigue, and quality of life. The primary outcome was the 12-month change in time spent in activities above an estimated energy expenditure of 2.5 metabolic equivalents (METs). Secondary daily life physical activity outcomes included number of steps per day, total daily energy expenditure, and total energy expenditure above 2.5 METs. Results The primary outcome did not differ between the two groups; mean between-group differences were −13.2 min (95% confidence interval [CI]: −76.3 to 49.8) at 6 months and −18.1 min (95% CI: −55.7 to 19.4) at 12 months. Although PR had no effect on secondary daily life physical activity outcomes, it did significantly increase exercise tolerance at 6 and 12 months and decrease the dyspnea score at 6 months and the fatigue score at 12 months. Conclusion This trial failed to demonstrate a beneficial effect of PR on daily life physical activity in sarcoidosis patients, suggesting that long-term behavioral programs may be necessary to complement PR.
Published: 2019

37. Characterisation of a new clinical presentation of chronic lymphocytic leukaemia: symptomatic bronchial involvement, a study from the FILO group

Author: Mathieu Wemeau, Kamel Laribi, Romain Dubois, Brigitte Dreyfus, Stéphanie Poulain, Cécile Tomowiak, Jehan Dupuis, Frédéric Wallyn, Hélène Demarquette, Héloïse Dapvril, Florence Cymbalista, Charles Herbaux, Jacques-Olivier Bay, Jean-Baptiste Bossard, Franck Morschhauser, Morgane Nudel, Lidwine Wemeau, Stéphane Leprêtre, Fanny Baran-Marszak, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Henri Mondor, Centre Hospitalier Le Mans (CH Le Mans), CHU Clermont-Ferrand, Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Rouen, Normandie Université (NU), CH de Roubaix, CHADEYRON, DOMINIQUE, Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), and Université Clermont Auvergne [2017-2020] (UCA [2017-2020])
Subjects: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Male, medicine.medical_specialty, endobronchial nodules, extramedullary involvement, MEDLINE, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Extramedullary Involvement, medicine, Humans, treatment criterion, ComputingMilieux_MISCELLANEOUS, Aged, Retrospective Studies, Aged, 80 and over, Lymphocytic leukaemia, business.industry, Retrospective cohort study, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, Middle Aged, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, symptomatic bronchial involvement, Leukemia, 030220 oncology & carcinogenesis, Female, Presentation (obstetrics), business, chronic lymphocytic leukaemia, 030215 immunology
Abstract: International audience; No abstract available
Published: 2019

38. Regulator of telomere length 1 ( RTEL1 ) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

Author: Arturo Londoño-Vallejo, Clément Gauvain, Julie Traclet, Tristan Dégot, Vincent Cottin, Marie Wislez, Raphael Borie, Bruno Crestani, Stéphane Dominique, Lidwine Wemeau-Stervinou, Patrick Revy, Aurélie Cazes, Caroline Kannengiesser, Pierre-Antoine Juge, Hilario Nunes, Christelle Ménard, Diane Bouvry, Catherine Boileau, Jacques Cadranel, Marie-Pierre Debray, Sébastien Quétant, Anne Sophie Gamez, Hervé Mal, Grégoire Prévot, Philippe Dieudé, Madeleine Jaillet, Arnaud Mailleux, Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Rétrovirus et Pathologie Comparée (RPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Ecole Nationale Vétérinaire de Lyon (ENVL), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Département de Radiologie [Bichat] (DR- Bichat), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Centre National de la Recherche Scientifique (CNRS), Service de pneumologie et réanimation [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], Service de Rhumatologie, AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité-AP-HP, CHU Rouen, Normandie Université (NU), Département pneumologie et addictologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Université Paris Diderot, Sorbonne Paris Cité, Paris, France, Université Paris Diderot - Paris 7 (UPD7), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Telomeres and Cancer Laboratory, Institut Curie, Service de pneumologie B, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7), Service de cardiologie, Service de Pneumologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), Université Paris 13 (UP13)-UFR SMBH, Service de pneumologie [Toulouse], CHU Toulouse [Toulouse]-Hôpital Larrey, Centre Hospitalier Universitaire [Grenoble] (CHU), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Université de Lyon-Université de Lyon, Service de pneumologie. Centre de compétence des maladies pulmonaires rares, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Theranoscan, Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et Epidemiologie de l'Insuffisance Respiratoire, Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité, Centre de Recherche Saint-Antoine (UMRS893), Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Toulouse [Toulouse]-Hôpital Larrey [Toulouse], CHU Toulouse [Toulouse], Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), UFR SMBH-Université Paris 13 (UP13), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)
Subjects: 0301 basic medicine, Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Gene mutation, 03 medical and health sciences, Idiopathic pulmonary fibrosis, 0302 clinical medicine, Fibrosis, Pulmonary fibrosis, Medicine, Telomerase reverse transcriptase, Exome, Exome sequencing, business.industry, Interstitial lung disease, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, respiratory system, medicine.disease, 3. Good health, respiratory tract diseases, 030104 developmental biology, 030228 respiratory system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, business
Abstract: Regulator of telomere length 1 (RTEL1) mutations have been evidenced in 5–9% of familial pulmonary fibrosis; however, the phenotype of patients with interstitial lung disease (ILD) and RTEL1 mutations is poorly understood.Whole exome sequencing was performed in 252 probands with ILD and we included all patients with ILD and RTEL1 mutation. RTEL1 expression was evaluated by immunochemistry in the lungs of controls, as well as in RTEL1 and telomerase reverse transcriptase (TERT) mutation carriers.We identified 35 subjects from 17 families. Median age at diagnosis of ILD was 53.1 years (range 28.0–80.6). The most frequent pulmonary diagnoses were idiopathic pulmonary fibrosis (n=20, 57%), secondary ILD (n=7, 20%) and unclassifiable fibrosis or interstitial pneumonia with autoimmune features (n=7, 20%). The median transplant-free and overall survival periods were 39.2 months and 45.3 months, respectively. Forced vital capacity at diagnosis was the only factor associated with decreased transplant-free survival. Extra-pulmonary manifestations were less frequent as compared to other telomere-related gene mutation carriers. A systematic analysis of the literature identified 110 patients with ILD and RTEL1 mutations (including this series) and confirmed the heterogeneity of the pulmonary phenotype, the prevalence of non-idiopathic diseases and the low prevalence of extra-pulmonary manifestations.Immunohistochemistry showed that RTEL1 was expressed by bronchial and alveolar epithelial cells, as well as by alveolar macrophages and lymphocytes, but not by fibroblasts.
Published: 2019

39. Methotrexate and rheumatoid arthritis associated interstitial lung disease

Author: Kevin D. Deane, Eric L. Matteson, Leticia Kawano-Dourado, Yannick Allanore, René-Marc Flipo, Christophe Richez, Sébastien Ottaviani, David A. Schwartz, Karina Bonfiglioli, Montserrat I González-Pérez, Yurdagul Uzunhan, Gabriel Thabut, Jorge Rojas Serrano, Raphael Borie, Thierry Schaeverbeke, Benoit Wallaert, Ivan O. Rosas, Ramcés Falfán-Valencia, Lorenzo Cavagna, Marie-Elise Truchetet, Pascal Richette, Marco Sebastiani, Tracy J. Doyle, Emanuele Bozzalla Cassione, Gouri Koduri, Esther Ebstein, Jay H. Ryu, Lidwine Wemeau-Stervinou, Huguette Lioté, Dominique Valeyre, Pedro Rodríguez-Henriquez, Raphaël Porcher, Bruno Crestani, Jessica Lau, Steven Gazal, Marie-Christophe Boissier, Marie-Pierre Debray, Hilario Nunes, Mayra Mejía, Ivette Buendía-Roldán, Sylvain Marchand-Adam, Robert Vassallo, Andreina Teresa Manfredi, Nathalie Saidenberg-Kermanac’h, Joshua J. Solomon, Claire Dromer, Joyce S. Lee, Gloria Pérez-Rubio, Catherine Boileau, V. Michael Holers, Pierre-Antoine Juge, Marcio Valente Yamada Sawamura, Ronaldo Adib Kairalla, Caroline Kannengiesser, and Philippe Dieudé
Subjects: 030203 arthritis & rheumatology, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Extramural, business.industry, Diffuse lung disease, respiratory system, behavioral disciplines and activities, Article, respiratory tract diseases, Arthritis, Rheumatoid, body regions, 03 medical and health sciences, Methotrexate, 0302 clinical medicine, Antirheumatic Agents, Case-Control Studies, Family medicine, medicine, Humans, In patient, 030212 general & internal medicine, Lung Diseases, Interstitial, business, Lung
Abstract: Background: Methotrexate (MTX) is a key anchor drug for rheumatoid arthritis (RA) management. Its use has been associated with hypersensitivity pneumonitis and diffuse lung disease. Whether MTX exposure increases the risk of interstitial lung disease (ILD) in patients with RA is disputed. Objectives: We aimed to evaluate the association of antecedent MTX use with development of RA-ILD. Methods: Through a case-control study design with derivation and international validation samples, we examined the association of MTX exposure with ILD in 482 patients with RA-ILD and 741 patients with RA without ILD. Estimates were pooled over the different samples using meta-analysis techniques. Results: Analysis of the derivation sample revealed an inverse relationship between MTX exposure and RA-ILD (adjusted odds ratio [OR], 0.48; 95% confidence interval [CI], 0.25 to 0.92; P=0.028), which was confirmed in the validation samples (pooled adjusted OR, 0.39; 95% CI, 0.23 to 0.68; P Conclusion: Our results suggest that MTX is not a risk factor for RA-ILD and support a possible disease modifying effect of MTX on development of RA-ILD. Disclosure of Interests: Pierre-Antoine Juge: None declared, Joyce S. Lee Consultant of: Celgene, Genentech, Boehringer Ingelheim, Jessica Lau: None declared, Leticia Kawano: None declared, Jorge Rojas-Serrano: None declared, Marco Sebastiani: None declared, Gouri Koduri: None declared, Eric Matteson Grant/research support from: Pfizer, Consultant of: Boehringer Ingelheim, Gilead, TympoBio, Arena Pharmaceuticals, Speakers bureau: Simply Speaking, Karina Bonfiglioli Consultant of: Roche, Abbvie, Pfizer, Janssen and BMS, Marcio Sawamura: None declared, Ronaldo Kairalla: None declared, Lorenzo Cavagna: None declared, Emanuele Bozzalla Cassione: None declared, Andreina Manfredi: None declared, Mayra Mejia: None declared, Pedro Rodriguez Henriquez: None declared, Montserrat I. Gonzalez-Perez: None declared, Ramces Falfan-Valencia: None declared, Ivette Buendia-Roldan: None declared, Glora Perez-Rubio: None declared, Esther Ebstein Consultant of: BMS, Employee of: BMS, Steven Gazal: None declared, Raphael Borie Consultant of: Roche, Boehringer Ingelheim, Sebastien Ottaviani: None declared, Caroline Kannengiesser: None declared, Benoit Wallaert Consultant of: Roche, Boehringer Ingelheim, Yurdagul Uzunhan Consultant of: Roche, Boehringer Ingelheim,, Hilario Nunes: None declared, Dominique Valeyre Consultant of: Astra Zeneca, Roche, Boehringer Ingelheim, Nathalie Saidenberg Kermanac’h: None declared, marie-Christophe Boissier: None declared, Lidwine Wemeau Stervinou Consultant of: Roche, Janssen, BMS, Boehringer Ingelheim, Rene-Marc Flipo Speakers bureau: Novartis, Janssen, Lilly, Sylvain Marchand-Adam Consultant of: Roche, Novartis, Boehringer Ingelheim, Pascal Richette: None declared, Yannick Allanore Shareholder of: Sanofi, Roche, Consultant of: Actelion, Bayer, BMS, Boehringer Ingelheim, Inventiva, Sanofi, Claire Dromer: None declared, Marie-Elise Truchetet: None declared, Christophe Richez Consultant of: Abbvie, Amgen, Mylan, Pfizer, Sandoz and UCB., Thierry Schaeverbeke: None declared, Huguette Liote: None declared, Gabriel Thabut Employee of: Astra Zeneca, Kevin Deane Grant/research support from: Janssen, Consultant of: Inova, ThermoFisher, Janseen, BMS and Microdrop, Joshua Solomon: None declared, Tracy Doyle: None declared, Jay H. Ryu: None declared, Ivan O. Rosas Consultant of: Boehringer Ingelheim, Gerentech, Three Lakes Partners, V. Michael Holers Grant/research support from: Janssen, Celgene, and BMS, Catherine Boileau: None declared, Marie-Pierre Debray: None declared, Raphael Porcher: None declared, David A. Schwartz Consultant of: NuMedii, Robert Vassallo Shareholder of: Pfizer, BMS, SunPharma, Bruno Crestani Shareholder of: Apellis, Boehringer Inghelheim, Medillune, Roche, Consultant of: Boehringer Ingelhiem, Astra Zeneca, Roche, Sanofi, Philippe Dieude: None declared
Published: 2020

40. Multidisciplinary team dedicated to suspected heritable pulmonary fibrosis

Author: Nadia Nathan, Serge Amselem, Ralph Epaud, Philippe Dieudé, Laurent Gouya, Bruno Crestani, Vincent Cottin, Olivier Brugière, Pascale Fanen, Lidwine Wemeau-Stervinou, Annick Clement, Caroline Kannengiesser, Flore Sicre de Fontbrune, Clairelyne Dupin, Diane Bouvry, and Raphael Borie
Subjects: medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Mean age, Lung biopsy, medicine.disease, Multidisciplinary team, Patient management, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Pulmonary fibrosis, medicine, Lung transplantation, 030212 general & internal medicine, Intensive care medicine, business, Genetic testing
Abstract: Genetic testing is proposed for suspected cases of pulmonary fibrosis of genetics origin but clinicians and patients need advice about the related diagnostic and management issues. Because multidisciplinary team (MDT) has been shown to improve accuracy of ILD diagnosis, we evaluated the feasibility of an MDT dedicated to the indication and interpretation of genetic testing. The MDT met monthly, included pneumologists experts in ILD in adults, children, geneticists, radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend. Since 2016, 70 patients (37 males, 33 females) were discussed, from 31 different centers (7 countries). Mean age was 46.4 years [0-71] including 3 patients The MDT therapeutic proposals were: antifibrotic drugs (n=23), best supportive care (n=4), surgical lung biopsy (n=2), steroids (n=7), lung transplantation (n=16), or watch and wait (n=9). Our experience shows that a dedicated MDT with genetic analysis is feasible including patients of all ages and provides a unique opportunity to improve knowledge and to adapt patient management and therapy.
Published: 2018

41. Pulmonary hypertension in patients with idiopathic pulmonary fibrosis and combined pulmonary fibrosis and emphysema: hemodynamic severity

Author: Emmanuel Bergot, Fabrice Piegay, Martine Reynaud-Gaubert, Xavier Jaïs, Lize Kiakouama-Maleka, Mouhamad Nasser, Laurent Bertoletti, David Montani, Julie Traclet, Vincent Cottin, Sylvain Marchand-Adam, Stéphanie Polazzi, Kais Ahmad, Hilario Nunes, Emmanuel Gomez, Maria Laura Graziani, Lidwine Wemeau-Stervinou, Boubou Camara, Anna Nieves, Sabrina Zeghmar, Anne-Marie Schott-Pethelaz, Dominique Israel-Biet, Virginie Zarza, Microbes évolution phylogénie et infections (MEPHI), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU), Assistance Publique-Hôpitaux de Marseille (AP-HM), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Services de Pneumologie, Exploration Fonctionnelle Respiratoire et Cardiologie (Hôpital Louis Pradel), Hospices Civils de Lyon (HCL), Service de pneumologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Groupe de recherche sur la thrombose (GRT (EA 3065)), Université Jean Monnet [Saint-Étienne] (UJM), Clinique de pneumologie, CHU Grenoble, Service de Pneumologie A, Centre de Compétences des Maladies Pulmonaires Rares, Université Paris Descartes - Paris 5 (UPD5), Université Paris-Sud - Paris 11 (UP11), Département de Pneumologie [HCL, Lyon], Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie et Réanimation Respiratoire (DHU TORINO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre-Centre de Référence de l'Hypertension Pulmonaire Sévère, Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), Université Paris 13 (UP13)-UFR SMBH, Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Service de pneumologie. Centre de compétence des maladies pulmonaires rares, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Pôle Information Médicale Evaluation Recherche (IMER), Hôpital Louis Pradel – Service de Pneumologie – Centre de Référence des Maladies Pulmonaires Rares, Department of Pneumology [Lyon], Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM), Groupe de recherche sur la thrombose, pharmacologie des antithrombotiques et situations à risque (GRT), Université Jean Monnet - Saint-Étienne (UJM), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Laboratoire Interdisciplinaire des Environnements Continentaux (LIEC), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre-Centre de Référence de l'Hypertension Pulmonaire Sévère, and Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL)
Subjects: medicine.medical_specialty, business.industry, respiratory system, medicine.disease, Combined pulmonary fibrosis and emphysema, Pulmonary hypertension, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, respiratory tract diseases, 3. Good health, Idiopathic pulmonary fibrosis, FEV1/FVC ratio, medicine.anatomical_structure, DLCO, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, medicine.artery, Internal medicine, Pulmonary artery, Pulmonary fibrosis, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, medicine, Cardiology, Vascular resistance, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, business, ComputingMilieux_MISCELLANEOUS
Abstract: Background: Idiopathic pulmonary fibrosis (IPF) and combined pulmonary fibrosis with emphysema (CPFE) are associated with an increased risk of pulmonary hypertension (PH). Few data are available regarding PH severity and correlation with respiratory physiology. Aim: To evaluate baseline respiratory and hemodynamic characteristics of patients with IPF-PH and CPFE-PH. Methods: Patients with a diagnosis of IPF or CPFE were analysed from a prospective multicenter observational study (HYPID) conducted in French expert centers for rare pulmonary diseases and/or PH (NCT01443598). Severe PH was defined as mean pulmonary artery pressure (mPAP) > 35 mmHg or cardiac index (CI) Results: Out of 220 patients included in the cohort, 61 had IPF-PH and 75 CPFE-PH. Patients were 74% males, with a mean age of 69 ± 9 years. The mean FVC at baseline was 75 ± 25%, and mean DLco was 25 ± 10%. NYHA class was I-II in 18% of patients, III in 56%, IV in 24%, N/A in 2%. Six-min walk distance was 276 ± 145 m. Hemodynamic characteristics were mPAP 38 ± 9 mmHg, CI 2.5 ± 0.6 L/min/m², and pulmonary vascular resistance (PVR) 8.7 ± 3 WU. Kco was lower in CPFE-PH than in IPF-PH (table); other parameters were comparable between groups. DLco at baseline significantly correlated with mPAP (p=0.01 in IPF and 0.04 in CPFE group). DLco also correlated with PVR and CI in IPF-PH (p=0.001 and 0.01 respectively), but not in CPFE-PH. Conclusion: Hemodynamic severity is comparable in patients with IPF-PH and CPFE-PH, and correlates with DLco. Further study is needed to evaluate the prognostic significance of hemodynamic severity.
Published: 2018

42. OP0284 Muc5b promoter variant rs35705950 is a risk factor for rheumatoid arthritis – interstitial lung disease

Author: A. Gross, Naoyuki Tsuchiya, Ramcés Falfán-Valencia, N. Saidenberg, Shomi Oka, Joyce S. Lee, Bruno Crestani, E. Ebstein, Ivette Buendía-Roldán, M. Schwarz, David A. Schwartz, J. van der Vis, Kevin D. Deane, Sébastien Ottaviani, D. Assayag, Theofanis Karageorgas, C. Kannengiesser, Avram D Walts, Timothy B. Niewold, M.-P. Debray, René-Marc Flipo, Paul J. Wolters, Lidwine Wemeau-Stervinou, P. Dieudé, Catherine Boileau, C. Van Moorsel, K. Antoniou, Mayra Mejía, Pierre-Antoine Juge, Spyros Papiris, Effrosyni D. Manali, Dimitrios T. Boumpas, Hilario Nunes, J. Rojas-Serrano, Benoit Wallaert, Tasha E. Fingerlin, Shigeto Tohma, R. Borie, Y. de Man, Eric L. Matteson, Dominique Valeyre, Jan C. Grutters, Montserrat I González-Pérez, M. Holers, S. Gazal, Y. Wang, Tracy J. Doyle, Hiroshi Furukawa, Sylvain Marchand-Adam, Joshua J. Solomon, and E. Dobrinskikh
Subjects: medicine.medical_specialty, education.field_of_study, business.industry, Population, Interstitial lung disease, respiratory system, medicine.disease, Gastroenterology, respiratory tract diseases, Idiopathic pulmonary fibrosis, Usual interstitial pneumonia, Rheumatoid arthritis, Internal medicine, Cohort, medicine, Immunohistochemistry, Risk factor, business, education
Abstract: Background Rheumatoid arthritis–associated interstitial lung disease (RA-ILD) and idiopathic pulmonary fibrosis (IPF) share phenotypic similarities. The gain-of-function MUC5B promoter variant rs35705950 is the strongest risk factor for development of IPF Objectives We hypothesised that rs35705950 would also contribute to the risk of ILD in RA patients. Methods Using a French discovery population and multi-ethnic validation populations from 6 different countries, we tested the association of the MUC5B promoter variant in RA-ILD (n=620), RA without ILD (n=614), and unaffected controls (n=5448). Results The discovery population revealed an association of the MUC5B promoter variant with RA-ILD when compared to unaffected controls (ORadj=3.8 95% CI: 2.8 to 5.2; p=9.7x10–17) (figure 1A). Similar to the discovery cohort, the MUC5B promoter variant was significantly over-represented among the cases of RA-ILD in the multi-ethnic study cohorts when compared to unaffected controls (ORadj=5.5 95% CI: 4.2 to 7.2; p=4.7x10–35) (figure 1A), and when the discovery population and the multi-ethnic cohorts were combined (ORcombined=4.7 95% CI: 3.9 to 5.8; p=1.3x10–49) (figure 1A). Additionally, the MUC5B promoter variant was found to increase the risk of ILD among patients with RA (ORcombined=3.1 95% CI: 1.8 to 5.4; p=7.4x10–5), however, no statistical association with the MUC5B promoter variant was observed for RA without ILD (figure 1B). The association of the MUC5B promoter variant with RA-ILD increased significantly when restricted to the usual interstitial pneumonia (UIP) by high-resolution computed tomography (ORcombined=6.1 95% CI: 2.9 to 13.1; p=2.5x10–6) (figure 1C). Immunohistochemical and in-situ hybridization analysis of RA-ILD lung tissue demonstrated expression of MUC5B by type 2 alveolar epithelial cells undergoing endoplasmic reticulum stress. Conclusions Our findings demonstrate that MUC5B promoter variant rs35705950 is a risk factor for RA-ILD specifically associated with radiologic evidence of UIP. Disclosure of Interest None declared
Published: 2018

43. Effects of pulmonary rehabilitation on daily life physical activity of fibrotic idiopathic interstitial pneumonia patients

Author: Olivier Le Rouzic, Nicolas Masson, Benoit Wallaert, Lidwine Wemeau-Stervinou, Baptiste Chéhère, and Jean-Marie Grosbois
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, medicine.medical_treatment, lcsh:R, MEDLINE, Physical activity, Original Reserach Letters, lcsh:Medicine, medicine.disease, respiratory tract diseases, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Quality of life, Internal medicine, Medicine, Anxiety, Pulmonary rehabilitation, 030212 general & internal medicine, medicine.symptom, business, Idiopathic interstitial pneumonia, Depression (differential diagnoses)
Abstract: According to the international consensus statement of 2011, idiopathic pulmonary fibrosis (IPF) and idiopathic nonspecific interstitial pneumonia (NSIP) are classified as fibrotic idiopathic interstitial pneumonia (f-IIP) of unknown aetiology [1]. f-IIP patients display persistent and significant dyspnoea, exercise intolerance and poor health-related quality of life [2]. f-IIP is also associated with a marked reduction in daily life physical activity (DLPA) [3], which is related to morbidity and mortality in many chronic diseases, including f-IIP [4–6]., Fibrotic idiopathic interstitial pneumonia patients derived benefit from a pulmonary rehabilitation programme in terms of exercise tolerance, anxiety, depression and quality of life without increasing their daily life physical activity http://ow.ly/WV7U30kgNkU
Published: 2018

44. Rituximab for auto-immune alveolar proteinosis, a real life cohort study

Author: Martine Reynaud-Gaubert, Jean-Marc Naccache, Leonidas Chavez, Lidwine Wemeau-Stervinou, Sylvain Marchand-Adam, Laurent Savale, Abdellatif Tazi, Marie-Pierre Debray, Bruno Crestani, Jacques Cadranel, Hilario Nunes, Sylvie Leroy, Raphael Borie, Berenice Soyez, Vincent Cottin, Cedric Menard, Emmanuel Gomez, Service de Pneumologie A [Paris], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), LabEx Inflamex, Université Sorbonne Paris Cité (USPC), CHU Pontchaillou [Rennes], Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire [Grenoble] (CHU), Department of Pneumology [Lyon], Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Hôpital Pasteur [Nice] (CHU), Université Pierre et Marie Curie - Paris 6 (UPMC), Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), Université Paris 13 (UP13)-UFR SMBH, Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Centre de référence des Histiocytoses, Service de pneumologie. Centre de compétence des maladies pulmonaires rares, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Radiologie [Bichat] (DR- Bichat), Fondation du Souffle (FR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), COMBE, Isabelle, Service de Pneumologie = Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)
Subjects: Adult, Male, medicine.medical_specialty, Alveolar proteinosis, medicine.medical_treatment, Interstitial lung disease, Pulmonary Alveolar Proteinosis, Bronchoalveolar Lavage, Gastroenterology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Refractory, Internal medicine, Surfactant, medicine, Humans, Immunologic Factors, Lung transplantation, Whole lung lavage, 030212 general & internal medicine, Adverse effect, Autoantibodies, Retrospective Studies, lcsh:RC705-779, business.industry, Research, GM-CSF, lcsh:Diseases of the respiratory system, [SDV.IMM.IMM]Life Sciences [q-bio]/Immunology/Immunotherapy, Middle Aged, medicine.disease, 3. Good health, 030228 respiratory system, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Female, Rituximab, France, Therapy, [SDV.IMM.IMM] Life Sciences [q-bio]/Immunology/Immunotherapy, business, Pulmonary alveolar proteinosis, Follow-Up Studies, medicine.drug, Cohort study
Abstract: International audience; Background: Whole lung lavage is the current standard therapy for pulmonary alveolar proteinosis (PAP) that is characterized by the alveolar accumulation of surfactant. Rituximab showed promising results in auto-immune PAP (aPAP) related to anti-GM-CSF antibody.Methods: We aimed to assess efficacy of rituximab in aPAP in real life and all patients with aPAP in France that received rituximab were retrospectively analyzed.Results: Thirteen patients were included. No patients showed improvement 6 months after treatment, but, 4 patients (30%) presented a significant decrease of alveolar-arterial difference in oxygen after 1 year. One patient received lung transplantation and one patient was lost of follow-up within one year. Although a spontaneous improvement cannot be excluded in these 4 patients, improvement was more frequent in patients naive to prior specific therapy and with higher level of anti-GM-CSF antibodies evaluated by ELISA. No serious adverse event was evidenced. Conclusions: These data do not support rituximab as a second line therapy for patients with refractory aPAP.
Published: 2018

45. Regulator of telomere length 1 (

Author: Raphael, Borie, Diane, Bouvry, Vincent, Cottin, Clement, Gauvain, Aurélie, Cazes, Marie-Pierre, Debray, Jacques, Cadranel, Philippe, Dieude, Tristan, Degot, Stephane, Dominique, Anne Sophie, Gamez, Madeleine, Jaillet, Pierre-Antoine, Juge, Arturo, Londono-Vallejo, Arnaud, Mailleux, Hervé, Mal, Catherine, Boileau, Christelle, Menard, Hilario, Nunes, Gregoire, Prevot, Sebastien, Quetant, Patrick, Revy, Julie, Traclet, Lidwine, Wemeau-Stervinou, Marie, Wislez, Caroline, Kannengiesser, and Bruno, Crestani
Subjects: Adult, Aged, 80 and over, Lung Diseases, Male, Heterozygote, Vital Capacity, DNA Helicases, Sequence Analysis, DNA, Middle Aged, Pedigree, Phenotype, Gene Expression Regulation, Mutation, Humans, Exome, Female, Lung Diseases, Interstitial, Telomerase, Aged, Follow-Up Studies
Abstract: Regulator of telomere length 1 (
Published: 2018

46. Reply to Gilchrist et al. and to Musher

Author: Hugues Melliez, David Launay, Benjamin Lopez, Benoit Wallaert, Mathilde Bahuaud, Anne Boucher, Lidwine Wemeau-Stervinou, Pierre-Yves Hatron, Eric Hachulla, Sylvain Dubucquoi, Geoffrey Mortuaire, Myriam Labalette, Frédéric Batteux, Guillaume Lefèvre, Karine Faure, Frédéric Wallet, and Louis Terriou
Subjects: 0301 basic medicine, Microbiology (medical), Adult, medicine.medical_specialty, business.industry, 030106 microbiology, MEDLINE, Immunologic Deficiency Syndromes, Bacterial Infections, Dermatology, 03 medical and health sciences, 0302 clinical medicine, Infectious Diseases, Polysaccharides, medicine, Humans, 030212 general & internal medicine, business
Published: 2018

47. Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation

Author: Anne Gondouin, Martine Reynaud-Gaubert, Eline Magois, Anne Sophie Gamez, Hilario Nunes, Maria Molina Molina, Sylvain Marchand-Adam, Aurélien Justet, Lidwine Wemeau, Raphael Borie, Gabriel Thabut, Vincent Cottin, Caroline Kannengiesser, Bruno Crestani, Grégoire Prévot, Cécile Tromeur, Jacques Cadranel, Spyros Papiris, Effrosyni D. Manali, Université Paris Diderot, Sorbonne Paris Cité, Paris, France, Université Paris Diderot - Paris 7 (UPD7), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pneumologie B, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Pneumology [Lyon], Hospices Civils de Lyon (HCL), Service de Pneumologie, oncologie thoracique et allergologie respiratoire [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires (H&P), Université Paris 13 (UP13)-UFR SMBH, Pneumology and Intensive Care, Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de pneumologie [Toulouse], CHU Toulouse [Toulouse]-Hôpital Larrey [Toulouse], CHU Toulouse [Toulouse], Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Département des Maladies Respiratoires [Montpellier], Hôpital Arnaud de Villeneuve-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Microbes évolution phylogénie et infections (MEPHI), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU), Département Hospitalo-Universitaire Fibrosis, Inflammation, Remodeling in cardiovascular, respiratory and renal diseases (Paris), LabEx Inflamex, Université Sorbonne Paris Cité (USPC), Service de Pneumologie [Bichat], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Centre de Compétence pour les Maladies Pulmonaires Rares, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7), Service de pneumologie et réanimation [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], Service de Pneumologie [Besançon], Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz-Université de Franche-Comté (UFC), UFR SMBH-Université Paris 13 (UP13), Université de Brest (UBO), CHU Toulouse [Toulouse]-Hôpital Larrey, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre de Compétence pour les Maladies Pulmonaires Rares, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
Subjects: Male, Pulmonary and Respiratory Medicine, Oncology, Heterozygote, medicine.medical_specialty, Telomerase, Pyridones, Pulmonary Fibrosis, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Internal medicine, Humans, Medicine, In patient, 030212 general & internal medicine, Lung function, ComputingMilieux_MISCELLANEOUS, Aged, Retrospective Studies, Greece, business.industry, Anti-Inflammatory Agents, Non-Steroidal, Retrospective cohort study, Pirfenidone, Middle Aged, respiratory system, humanities, 3. Good health, body regions, 030228 respiratory system, Multicenter study, Spain, Mutation, Mutation (genetic algorithm), RNA, Female, France, Patient Safety, business, medicine.drug
Abstract: In this retrospective study, a beneficial effect of pirfenidone on lung function decline could not be demonstrated in patients carrying TERT/TERC mutation
Published: 2018

48. The 1-minute sit-to-stand test to detect exercise-induced oxygen desaturation in patients with interstitial lung disease

Author: Benoit Wallaert, Hélène Behal, Justine Briand, Cécile Chenivesse, Lidwine Wemeau-Stervinou, CHU Lille, Université de Lille, Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS], Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204 [CIIL], Centre de compétences des maladies pulmonaires rares de l'adulte [CHU Lille] (CRMPR), Service de Pneumologie et Immuno-Allergologie [CHU LIlle], Pole Cardio-vasculaire et pulmonaire [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Pole Cardio-vasculaire et pulmonaire [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Evaluation des technologies de santé et des pratiques médicales - ULR 2694 (METRICS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), The authors wish to thank Anne M. O’Rourke for editing the manuscript., and Université de Lille, LillOA
Subjects: Adult, Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Time Factors, Health Status, Walk Test, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, interstitial lung disease, 6-min walk test, 1-min sit-to-stand test, exercise, functional tests, Internal medicine, Humans, Medicine, Pharmacology (medical), In patient, 030212 general & internal medicine, Lung, Aged, Retrospective Studies, Original Research, lcsh:RC705-779, Exercise Tolerance, Oxygen desaturation, Pulmonary Gas Exchange, business.industry, Sit to stand test, Interstitial lung disease, Reproducibility of Results, lcsh:Diseases of the respiratory system, Gold standard (test), Middle Aged, medicine.disease, 030228 respiratory system, Spirometry, Walk test, Exercise Test, Cardiology, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Female, Lung Diseases, Interstitial, business
Abstract: Background: Although the 6-min walk test (6MWT) is the gold standard for assessing exercise-induced impairment of gas exchange, it cannot easily be performed in a clinical office environment. The aim of this study was to compare the 1-min sit-to-stand test (1STST) with the 6MWT for the ability to assess exercise-induced oxygen desaturation in patients with interstitial lung diseases (ILDs). Methods: A total of 107 patients were enrolled and classified into three groups: sarcoidosis, fibrotic idiopathic interstitial pneumonia (f-IIP), and other forms of ILD. The 6MWT and 1STST were performed on the same day, and pulmonary function tests, pulse oxygen saturation (SpO2), and dyspnea and fatigue (modified Borg scale) were assessed. SpO2 desaturation was evaluated by intraclass correlation coefficient (ICC), Bland–Altman analysis, and kappa (κ) coefficient in the whole population and the patient subgroups. Results: The SpO2 nadir during the 1STST and 6MWT showed good consistency [mean ± standard deviation: 92.5% ± 5% and 90% ± 7%, respectively; ICC 0.77, 95% confidence interval (CI) 0.71–0.83] and correlated strongly ( r = 0.9, p < 0.0001). The frequency of patients with oxygen desaturation ⩾4% was also consistent for the two exercise tests ( κ = 0.68, 95% CI 0.54–0.82). The number of repetitions in the 1STST correlated with the 6MWT distance ( r = 0.5, p < 0.0001), but the dyspnea scores were higher during the 1STST than the 6MWT ( p < 0.0001). These findings did not differ for the three patient subgroups. Conclusion: The 1STST can measure exercise-induced desaturation in ILD patients and could be used as an alternative test to the 6MWT in office practice.
Published: 2018

49. MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

Author: Yaping Wang, Annick Clement, Nadia Nathan, Joanne J. van der Vis, Huguette Lioté, Aryeh Fischer, Dominique Valeyre, David A. Schwartz, Jan C. Grutters, Timothy B Niewold, Michael A. Nalls, Ivette Buendía-Roldán, Dimitrios Boumpas, Vincent Cottin, Marie-Christophe Boissier, Theofanis Karageorgas, Mayra Mejía, Yaël A de Man, Kevin D. Deane, Effrosyni D. Manali, Katarina M. Antoniou, Joshua J. Solomon, Jay H. Ryu, Pierre-Antoine Juge, Martin Soubrier, Jean Sibilia, Hilario Nunes, Marie-Pierre Debray, Christophe Richez, Spyros Papiris, Steven Gazal, Catherine Boileau, Deborah Assayag, Nathalie Saidenberg-Kermanac’h, Tasha E. Fingerlin, Claire Dromer, Marvin I. Schwarz, Esther Ebstein, Michael Holers, Tracy J. Doyle, Ivan O. Rosas, Bruno Crestani, Hiroshi Furukawa, Evgenia Dobrinskikh, Cornelis Blauwendraat, Paul J. Wolters, Naoyuki Tsuchiya, Thierry Schaeverbeke, Ramcés Falfán-Valencia, Lidwine Wemeau-Stervinou, Gabriel Thabut, Shigeto Tohma, Coline H.M. van Moorsel, Montserrat I González-Pérez, Andrew J. Gross, Benoit Wallaert, Shomi Oka, Caroline Kannengiesser, Joyce S. Lee, Enrique Ambrocio-Ortiz, Aline Frazier, Sylvain Marchand-Adam, René-Marc Flipo, Eric L. Matteson, Pascal Richette, S. Amselem, Raphael Borie, Jorge Rojas-Serrano, Yannick Allanore, Sébastien Ottaviani, Philippe Dieudé, Avram D Walts, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Colorado School of Medicine, Université de Tsukuba = University of Tsukuba, Sagamihara National Hospital [Kanagawa, Japan], Harvard T.H. Chan School of Public Health, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University of Athens, 'Attikon' Hospital, National and Kapodistrian University of Athens (NKUA), University of Crete [Heraklion] (UOC), St. Antonius Hospital [Nieuwegein], Nanjing Medical University, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Avicenne [AP-HP], Physiopathologie, Cibles et Thérapies de la Polyarthrite Rhumatoïde, Université Paris 13 (UP13)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Lariboisière-Fernand-Widal [APHP], Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Immuno-Rhumatologie Moléculaire, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Strasbourg (UNISTRA), CHU Bordeaux [Bordeaux], Immunology from Concept and Experiments to Translation (ImmunoConcept), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], CHU Clermont-Ferrand, Unité de Nutrition Humaine (UNH), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Clermont Auvergne (UCA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), National Jewish Health (NJH), Mayo Clinic and Mayo College of Medicine, Rochester, New York University School of Medicine, NYU System (NYU), McGill University = Université McGill [Montréal, Canada], University of California [San Francisco] (UC San Francisco), University of California (UC), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), National Institute on Aging [Bethesda, USA] (NIA), National Institutes of Health [Bethesda] (NIH), Societe Francaise de Rhumatologie, Club Rhumatismes Inflammation, la Chancellerie des Universites de Paris (legs Poix), Sorbonne Paris Cite (FPI-SPC Program), Agence Nationale de la Recherche ANR-10-LABX-46 ANR-10-EQPX-07-01 ANR-14-CE10-0006 ANR-10-INBS-09, France Genomique National Infrastructure, Pfizer, Chugai, Centre de Resources Biologiques Hopital Bichat Paris FranceFondation Arthritis, Département Hospitalo-Universitaire Fibrose Inflammation Remodelage, National Heart, Lung, and Blood Institute (UH2/3-HL123442, R01-HL097163, R21/R33-HL120770, P01-HL092870, and K23-HL138131), National Institute of Arthritis and Musculoskeletal and Skin Diseases (K23-AR051461), National Institute of Allergy and Infectious Diseases (U01-AI101981), U.S. Department of Defense (W81XWH-17-1-0597), National Center for Advancing Translational Science (UCSF-CTI KL2TR000143), the Nina Ireland Program for Lung Health, the Intramural Research Program of the National Institute of Aging, part of the National Institutes of Health, Department of Health and Human Services (Z01-AG000949–02), and the Japanese Society for the Promotion of Science., Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), and Societe Francaise de Rhumatologie, Club Rhumatismes Inflammation, la Chancellerie des Universites de Paris (legs Poix), Sorbonne Paris Cite (FPI-SPC Program), Agence Nationale de la Recherche ANR-10-LABX-46 ANR-10-EQPX-07-01 ANR-14-CE10-0006 ANR-10-INBS-09, France Genomique National Infrastructure, Pfizer, Chugai, Centre de Resources Biologiques Hopital Bichat Paris France
Subjects: Male, Lung Diseases, medicine.medical_specialty, Genotype, [SDV]Life Sciences [q-bio], Population, Arthritis, behavioral disciplines and activities, Gastroenterology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Promoter Regions, 03 medical and health sciences, Idiopathic pulmonary fibrosis, 0302 clinical medicine, Genetic, Internal medicine, Gain of Function Mutation, Odds Ratio, Medicine, Humans, Genetic Predisposition to Disease, Rheumatoid/complications/*genetics, Risk factor, education, Aged, 030203 arthritis & rheumatology, Lung/chemistry/pathology, education.field_of_study, business.industry, Interstitial lung disease, General Medicine, Odds ratio, respiratory system, Middle Aged, medicine.disease, respiratory tract diseases, 3. Good health, body regions, Minor allele frequency, 030228 respiratory system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Rheumatoid arthritis, Female, Interstitial/complications/*genetics, Mucin-5B/analysis/*genetics, business, Idiopathic Pulmonary Fibrosis/genetics
Abstract: International audience; BACKGROUND: Given the phenotypic similarities between rheumatoid arthritis (RA)-associated interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we hypothesized that the strongest risk factor for the development of idiopathic pulmonary fibrosis, the gain-of-function MUC5B promoter variant rs35705950, would also contribute to the risk of ILD among patients with RA. METHODS: Using a discovery population and multiple validation populations, we tested the association of the MUC5B promoter variant rs35705950 in 620 patients with RA-ILD, 614 patients with RA without ILD, and 5448 unaffected controls. RESULTS: Analysis of the discovery population revealed an association of the minor allele of the MUC5B promoter variant with RA-ILD when patients with RA-ILD were compared with unaffected controls (adjusted odds ratio, 3.8; 95% confidence interval [CI], 2.8 to 5.2; P=9.7x10(-17)). The MUC5B promoter variant was also significantly overrepresented among patients with RA-ILD, as compared with unaffected controls, in an analysis of the multiethnic case series (adjusted odds ratio, 5.5; 95% CI, 4.2 to 7.3; P=4.7x10(-35)) and in a combined analysis of the discovery population and the multiethnic case series (adjusted odds ratio, 4.7; 95% CI, 3.9 to 5.8; P=1.3x10(-49)). In addition, the MUC5B promoter variant was associated with an increased risk of ILD among patients with RA (adjusted odds ratio in combined analysis, 3.1; 95% CI, 1.8 to 5.4; P=7.4x10(-5)), particularly among those with evidence of usual interstitial pneumonia on high-resolution computed tomography (adjusted odds ratio in combined analysis, 6.1; 95% CI, 2.9 to 13.1; P=2.5x10(-6)). However, no significant association with the MUC5B promoter variant was observed for the diagnosis of RA alone. CONCLUSIONS: We found that the MUC5B promoter variant was associated with RA-ILD and more specifically associated with evidence of usual interstitial pneumonia on imaging. (Funded by Societe Francaise de Rhumatologie and others.).
Published: 2018

50. Évolution après transplantation pulmonaire pour fibrose chez les patients porteurs d’une mutation du complexe télomérase

Author: G. Prévot, A. Roux, Romain Lazor, Hervé Mal, Sylvain Marchand-Adam, J. Le Pavec, Raphael Borie, Caroline Kannengiesser, Jean-Marc Naccache, Johanna Claustre, Sandrine Hirschi, Vincent Cottin, Antoine Froidure, Martine Reynaud-Gaubert, Stéphane Jouneau, M. Phillips Houlbracq, Lidwine Wemeau-Stervinou, S. Park, Bruno Crestani, and Hilario Nunes
Subjects: Pulmonary and Respiratory Medicine
Abstract: Introduction Les patients atteints d’une pneumopathie interstitielle diffuse associee a une mutation d’un gene regulateur du complexe telomerase (TRG) semblent presenter une moins bonne survie et des complications hematologiques plus frequentes apres transplantation pulmonaire (TxP). L’objectif de cette etude etait de determiner l’evolution apres TxP de ces patients dans une cohorte francaise. Methodes Tous les patients porteurs d’une mutation d’un TRG ayant eu une TxP en France entre 2009 et 2017 ont ete identifies par les centres de transplantation et le reseau francais OrphaLung. Resultats Vingt-sept patients ont ete inclus, dont 67 % etaient des hommes, avec des mutations de TERT (n = 17), TERC (n = 6), et RTEL1 (n = 4). Avant la greffe, 19 (70 %) presentaient une atteinte hematologique, dont 6 un syndrome myelodysplasique et 14 une hepatopathie. L’âge median lors de la TxP etait de 54 (± 9) ans. Apres la TxP, tous les patients presentaient une anemie, 74 % une thrombopenie, et 54 % une neutropenie. Quatre patients ont presente des complications hepatiques severes : une hemochromatose post transfusionnelle, une fibrose hepatique et deux patients une hypertension portale. 26 % ont presente une dysfonction chronique du greffon dans un delai median de 2,1 (± 1,3) ans. Quinze receveurs sont decedes (56 %) au cours du suivi. La mediane de survie apres la TP etait de 4,4 ans. La presence d’une myelodysplasie avant la TxP etait associee a une diminution de la survie (p Conclusion La survie apres TxP des patients porteurs d’une mutation d’un TRG est comparable a celle des patients sans mutation. Une TxP est possible apres un bilan exhaustif des comorbidites extra-respiratoires et une prise en charge post-greffe adaptee. La presence d’un syndrome myelodysplasique avant la greffe doit faire rediscuter le projet de greffe.
Published: 2019

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