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7 results on '"Marine Tardieu"'

1. Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France

Author

Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot, and François Labarthe

Subjects
Phenylketonuria, Phenylalanine, Aspartame, Sugar tax, Restricted diet, Metabolic control, Medicine
Abstract

Abstract Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe microcephaly, intellectual disability, and behavioral problems. Dietary restriction of Phe is the mainstay of PKU treatment, with long-term successful outcomes. Aspartame, an artificial sweetener sometimes added into medications, is metabolized in the gut into Phe. Then, patients suffering from PKU on a Phe-restricted diet should avoid consumption of aspartame. The aim of our study was to evaluate the number of drugs containing aspartame and/or Phe as an excipient, and to quantify their corresponding Phe intake. Methods The list of drugs marketed in France containing aspartame and/or Phe was established using a national medication database called “Theriaque”. For each drug, the corresponding daily Phe intake was calculated according to age and weight and was distributed into 3 categories: high (> 40 mg/d), medium (10 to 40 mg/d) and low (

Published
2023
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2. Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Author

Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, and David Cheillan

Subjects
primary carnitine deficiency, CDSP, PCD, CTD, CUD, newborn screening, Pediatrics, RJ1-570
Abstract

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition.

Published
2023
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4. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Author

Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, and Anaïs Brassier

Subjects
Transplantation, Hematology
Abstract

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8–16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy.

Published
2022
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5. Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach

Author

Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, Pascale De Lonlay, Jean-Baptiste Arnoux, Anais Brassier, Manuel Schiff, Samia Pichard, Alexandre Fabre, Celia Hoebeke, Nathalie Guffon, Alain Fouilhoux, Pierre Broué, Guy Touati, Dries Dobbelaere, Karine Mention, Francois Labarthe, Marine Tardieu, Loïc De Parscau, Francois Feillet, Chrystèle Bonnemains, Alice Kuster, Philippe Labrune, Magalie Barth, Lena Damaj, Delphine Lamireau, Julie Berbis, Pascal Auquier, Brigitte Chabrol, Aix Marseille Université (AMU), Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-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), and Centre hospitalier universitaire de Nantes (CHU Nantes)

Subjects
[SDV]Life Sciences [q-bio], Pediatrics, Perinatology and Child Health
Abstract

The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French population norms and investigate parental QoL determinants.This cross-sectional study included mothers and/or fathers of children18 years of age affected by IEMs requiring a restricted diet (except phenylketonuria) from January 2015 to December 2017. Parents' QoL was assessed using the World Health Organization Quality of Life BREF questionnaire and compared with age- and sex-matched reference values from the French general population. Linear mixed models were used to examine the effects of demographic, socioeconomic, disease-related, and psychocognitive factors on parental QoL, according to a 2-level regression model considering individuals (parents) nested within families.Of the 1156 parents invited to participate, 785 (68%) were included. Compared with the general population, parents of children with IEMs requiring a restricted diet reported a lower QoL in physical and social relationship domains but a higher QoL in the psychological domain. In the multivariate analysis, characteristics associated with poorer parental QoL included both parent-related factors (being a father, older age, more educated parent, nonworking parent, greater anxiety, seeking more social support, and using less positive thinking and problem-solving coping strategies) and family-related factors (disease complications, increased number of hospital medical providers, child's younger age, single-parent family, and lower family material wealth).Parents of children with IEMs requiring a restricted diet reported poorer QoL in physical and social relationship domains than population norms. Psychocognitive factors, beyond disease-specific and family-related characteristics, were the most important determinants influencing parental QoL and may represent essential aspects for interventions.ClinicalTrials.gov: NCT02552784.

Published
2023
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6. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: A multicentre observational follow-up study of the European Pompe Consortium

Author

Imke A.M. Ditters, Hidde H. Huidekoper, Michelle E. Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana E. Mongini, François Labarthe, Marine Tardieu, Brigitte Chabrol, Anaïs Brassier, Rossella Parini, Giancarlo Parenti, Nadine A.M.E. van der Beek, Ans T. van der Ploeg, and Hannerieke van den Hout

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published
2022
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7. Liste des collaborateurs

Author

Pierre-Yves Ancel, Yannick Aujard, Olivier Baud, Antoine Bedu, Jacques Beltrand, Alexandra Benachi, Mélinda Bénard, Gérald Bertrand, Alain Beuchée, Farid Boubred, Olivier Brissaud, Kanetee Busiah, Laurence Caeymaex, Gilles Cambonie, Aurore Carré, Charlotte Casper, Hélène Cavé, Clément Chollat, Anne Cortey, Pascal de Lagausie†, Daniele De Luca, Christophe Delacourt, Xavier Durrmeyer, Ralph Epaud, Anne-Laure Fauret, Géraldine Favrais, Bobbi Fleiss, Francis Gold, Véronique Gournay, Béatrice Gouyon, Jean-Bernard Gouyon, Pierre Gressens, Yves Gruel, Silvia Iacobelli, Évelyne Jacqz-Aigrain, Pierre-Henri Jarreau, Cécile Kaplan, Dulanjalee Kariyawasam, Elsa Kermorvant, François Labarthe, Jean-Paul Langhendries, Alexandre Lapillonne, Michel Laurence, Philippe Leroux, Agnès Linglart, Françoise Lointier, Emmanuel Lopez, Stéphane Marret, Delphine Mitanchez, Marie-Christine Moll, Emmanuelle Motte-Signoret, Emmanuel Nouyrigat, Jean-Charles Picaud, Gaëlle Pinto-Cardoso, Alexandre Pitard, Patrick Pladys, Michel Polak, Julie Raignoux, Sowmyalakshmi Rasika, Laurent Renesme, Stéphane Rondeau, Jean-Michel Roué, Jean-Christophe Rozé, Élie Saliba, Marie-Josèphe Saurel-Cubizolles, Raphael Scharfmann, Umberto Simeoni, Jacques Sizun, Laurent Storme, Athanasia Stoupa, Marine Tardieu, Héloïse Torchin, Pierre Tourneux, Patrick Truffert, Laurence Vaivre-Douret, Juliette Van Steenwinckel, Catherine Vanhulle, Caroline Vayne, Rachel Vieux, Carole Vuillerot, and Bénédicte Wibaut

Published
2017
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