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6 results on '"Céline Bellesme"'

1. Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease

Author

Aurélia Poujois, Rodolphe Sobesky, Wassilios G. Meissner, Anne-Sophie Brunet, Emmanuel Broussolle, Chloé Laurencin, Laurence Lion-François, Olivier Guillaud, Alain Lachaux, François Maillot, Jérémie Belin, Ephrem Salamé, Claire Vanlemmens, Bruno Heyd, Céline Bellesme, Dalila Habes, Christophe Bureau, Fabienne Ory-Magne, Pascal Chaine, Jean-Marc Trocello, Daniel Cherqui, Didier Samuel, Victor de Ledinghen, Jean-Charles Duclos-Vallée, France Woimant, National reference Centre for Wilson's Disease [Paris] (CRMR Wilson), Service de neurologie [Univ. Paris VII], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service d'Electroneuromyographie et Service de Neurologie C [Hôpital Pierre Wertheimer - HCL], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université de Lyon, Département d'hépatologie, Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Groupe de Recherche en Economie Théorique et Appliquée (GREThA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Hôpital Claude Huriez [Lille], CHU Lille, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Badji Mokhtar de Annaba, CHU Toulouse [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Paul Brousse, Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Hôpital Purpan [Toulouse], and Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)

Subjects
Male, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Drug Resistance, Liver transplantation, Severity of Illness Index, Disability Evaluation, Young Adult, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Hepatolenticular Degeneration, Liver Function Tests, Modified Rankin Scale, Internal medicine, Severity of illness, Humans, Medicine, Survival rate, Retrospective Studies, medicine.diagnostic_test, business.industry, Parkinsonism, Retrospective cohort study, medicine.disease, Magnetic Resonance Imaging, Liver Transplantation, 3. Good health, Survival Rate, Female, 030211 gastroenterology & hepatology, Neurology (clinical), business, Liver function tests, 030217 neurology & neurosurgery
Abstract

ObjectiveTo evaluate the effect of liver transplantation (LT) in patients with Wilson disease (WD) with severe neurologic worsening resistant to active chelation.MethodsFrench patients with WD who underwent LT for pure neurologic indication were retrospectively studied. Before LT and at the last follow-up, neurologic impairment was evaluated with the Unified Wilson's Disease Rating Scale (UWDRS) score, disability with the modified Rankin Scale (mRS) score, and hepatic function with the Model for End-stage Liver Disease score, together with the presence of a Kayser-Fleischer ring (KFR), brain MRI scores, and copper balance. The survival rate and disability at the last follow-up were the coprimary outcomes; evolution of KFR and brain MRI were the secondary outcomes. Prognosis factors were further assessed.ResultsEighteen patients had LT. All were highly dependent before LT (median mRS score 5). Neurologic symptoms were severe (median UWDRS score 105), dominated by dystonia and parkinsonism. The cumulated survival rate was 88.8% at 1 year and 72.2% at 3 and 5 years. At the last follow-up, 14 patients were alive. Their mRS and UWDRS scores improved (p< 0.0001 andp= 0.0003). Eight patients had a major improvement (78% decrease of the UWDRS score), 4 a moderate one (41% decrease), and 2 a stable status. KFR and brain MRI scores improved (p= 0.0007). Severe sepsis (p= 0.011) and intensive care unit admission (p= 0.001) before LT were significantly associated with death.ConclusionsLT is a rescue therapeutic option that should be carefully discussed in selected patients with neurologic WD resistant to anticopper therapies (chelators or zinc salts) as it might allow patients to gain physical independency with a reasonable risk.Classification of evidenceThis study provides Class IV evidence that for patients with WD with severe neurologic worsening resistant to active pharmacologic therapy, LT might decrease neurologic impairment.

Published
2020
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2. Regional Pediatric Acute Stroke Protocol

Author

Manoelle Kossorotoff, David Grevent, Augustin Ozanne, Christian Denier, Céline Bellesme, Laurence Tabone, Olivier Naggara, Nicolas Mediamolle, Fabrice Lesage, Catherine Lamy, Beatrice Husson, and Isabelle Desguerre

Subjects
Male, medicine.medical_specialty, Time Factors, Adolescent, Treatment outcome, 030204 cardiovascular system & hematology, Tissue plasminogen activator, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Thrombolytic Therapy, Prospective Studies, Child, Prospective cohort study, Intensive care medicine, Stroke, Retrospective Studies, Acute stroke, Advanced and Specialized Nursing, Protocol (science), business.industry, Endovascular Procedures, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, Arterial Ischemic Stroke, Treatment Outcome, Child, Preschool, Tissue Plasminogen Activator, Reperfusion, Administration, Intravenous, Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Background and Purpose— To evaluate hyperacute management of pediatric arterial ischemic stroke, setting up dedicated management pathways is the first recommended step to prove the feasibility and safety of such treatments. A regional pediatric stroke alert protocol including 2 centers in the Paris-Ile-de-France area, France, was established. Methods— Consecutive pediatric patients (28 days–18 years) with confirmed arterial ischemic stroke who had acute recanalization treatment (intravenous r-tPA [recombinant tissue-type plasminogen activator], endovascular procedure, or both) according to the regional pediatric stroke alert were retrospectively reviewed during a 40-month period. Results— Thirteen children, aged 3.7 to 16.6 years, had recanalization treatment. Median time from onset to magnetic resonance imaging was 165 minutes (150–300); 9 out of 13 had large-vessel occlusion. Intravenous r-tPA was used in 11 out of 13 patients, with median time from onset to treatment of 240 minutes (178–270). Endovascular procedure was performed in patients time-out for intravenous r-tPA (n=2) or after intravenous r-tPA inefficiency (n=2). No intracranial or peripheral bleeding was reported. One patient died of malignant stroke; outcome was favorable in 11 out of 12 survivors (modified Rankin Scale score 0–2). Conclusions— Hyperacute recanalization treatment in pediatric stroke, relying on common protocols and adult/pediatric ward collaboration, is feasible. Larger systematic case collection is encouraged.

Published
2017
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3. Extracranial vertebral artery dissection in children: natural history and management

Author

Guillaume Saliou, Kumaran Deiva, Denis Ducreux, Béatrice Husson, Céline Bellesme, Marie Théaudin, Marc Tardieu, Frédérique Toulgoat, Hina Simonnet, and Sébastien Cabasson

Subjects
Male, medicine.medical_specialty, Vitamin K, Adolescent, Vertebral artery dissection, Magnetic resonance angiography, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Retrospective Studies, Neuroradiology, Vertebral Artery Dissection, Aspirin, medicine.diagnostic_test, business.industry, Anticoagulants, Infant, Heparin, Low-Molecular-Weight, medicine.disease, Cerebral Angiography, Surgery, Natural history, Treatment Outcome, Child, Preschool, Platelet aggregation inhibitor, Female, Neurology (clinical), Neurosurgery, Radiology, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, Magnetic Resonance Angiography, Platelet Aggregation Inhibitors, Cerebral angiography
Abstract

The objective of this study is to describe clinical and imaging presentation and outcome in extracranial vertebral artery dissection.Single-centre retrospective study over a 14-year period included 20 consecutive patients under the age of 16 years with extracranial vertebral artery dissection. The diagnosis was based on vascular imaging performed at the acute phase and clinical symptoms.A male predominance was observed (sex ratio 9/1). The first symptoms consisted of headache (45%), neck pain (15%), nausea (30%) and vertigo (30%). Clinical signs leading to admission to hospital were hemiparesis (60%), visual disorders with oculomotor disorders (20%) or visual field defects (20%) and cerebellar syndrome (35%). Eight patients (40%) reported repeated transient episodes of neurological deficits, prior to the diagnosis. The segment most commonly affected was V2-V3 (50%), followed by V3 (15%) and V2 (15%), V3-V4 (10%) and proximal V4 (10%). All patients but one presented cerebral infarction. Eleven patients received first-line treatment with low molecular weight heparin (LMWH), and nine patients received aspirin. Three patients experienced a recurrence of symptoms, one under vitamin K antagonist (VKA) and 2 under aspirin. All three were switched to LMWH with success. Fifty-eight percent of the dissected arteries were occluded at long-term follow-up, although 73% of them were patent at the acute phase.Initial imaging must include posterior fossa vessels and the craniocervical region with V2-V3 segments. Conventional angiography may be indicated in the absence of a definitive diagnosis on noninvasive imaging. Healing of the dissected vertebral artery predominantly resulted in occlusion, which does not constitute a pejorative factor but indicates good quality healing.

Published
2015
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4. Cerebral venous thrombosis after embolization of pediatric AVM with jugular bulb stenosis or occlusion: Management and prevention

Author

Guillaume Saliou, Céline Bellesme, M. Sachet, L. Chevret, Philippe Durand, Béatrice Husson, Denis Ducreux, Francesco Puccinelli, and Kumaran Deiva

Subjects
Intracranial Arteriovenous Malformations, Male, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, medicine.drug_class, medicine.medical_treatment, Constriction, Pathologic, Pediatrics, Occlusion, Humans, Medicine, Embolization, Child, Retrospective Studies, Venous Thrombosis, business.industry, Anticoagulant, Anticoagulants, Infant, Arteriovenous malformation, General Medicine, medicine.disease, Embolization, Therapeutic, Thrombosis, Cerebral Angiography, Surgery, Stenosis, Venous thrombosis, Child, Preschool, Vein of Galen Malformations, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Radiology, Intracranial Thrombosis, business, Complication, Magnetic Resonance Angiography
Abstract

Purpose Thrombosis of cerebral arteriovenous malformation after embolization is rare, but can involve the normal venous network with extensive venous thrombosis. We report angioarchitecture findings, our management and prevention strategy for this complication in pediatric AVMs. Methods In this 5.5-year retrospective series, we reviewed records of 13 patients under 15 years who were anticoagulated after embolization. In our initial experience 4 children who didn't receive any prophylactic anticoagulation presented with extensive venous thrombosis after embolization (group 1). Following this, nine children with similar angioarchitecture and embolization modalities were treated with prophylactic anticoagulation immediately after embolization (group 2). We analyzed the type of AVM, angioarchitecture, dose of prophylactic anticoagulant, efficacy/complications of treatment and late outcome. Results All patients in group 1 had severe jugular bulb stenosis/occlusion associated with cerebral venous dilatation. In group 2 with similar angioarchitecture, only three patients (33%) developed extensive thrombosis. In both groups, thrombosis occurred within two days of treatment in six children and two weeks in one child. The diagnosis was suspected on intracranial hypertension in five patients and occulomotor disorder in one. One was asymptomatic. All children were treated with therapeutic doses of LMWH (anti-Xa: 0.5–1). No hemorrhagic complications occurred. Good venous remodeling was observed in all but one patient. Conclusion Anticoagulation in extensive venous thrombosis after AVM embolization in children appears to be safe and effective. In cases with angioarchitectural features of dilatation of the cerebral venous network and occlusion/severe stenosis of the jugular bulbs, full dose anticoagulation may be required to prevent thrombosis.

Published
2014
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5. De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Author

Manoelle Kossorotoff, Céline Bellesme, Audrey Delaforge, Stanislas Lyonnet, Stéphanie Guey, Lou Grangeon, Jeanne Amiel, Francis Brunelle, Minh Arnould, Françoise Bergametti, Dominique Hervé, Jan Claudius Schwitalla, Béatrice Desnous, Markus Kraemer, and Elisabeth Tournier-Lasserve

Subjects
0301 basic medicine, Proband, Male, Pathology, medicine.medical_specialty, Adolescent, RASopathy, medicine.disease_cause, Germline, Angiopathy, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Moyamoya disease, Proto-Oncogene Proteins c-cbl, Child, Exome, Genetics (clinical), Exome sequencing, Germ-Line Mutation, Mutation, business.industry, Infant, medicine.disease, 030104 developmental biology, Child, Preschool, Female, Moyamoya Disease, business
Abstract

Background Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome. Methods A WES was performed in four unrelated early-onset moyamoya sporadic cases and their parents (trios). Exome data were analysed under dominant de novo, autosomal recessive and X-linked hypotheses. A panel of 17 additional sporadic cases with early-onset moyamoya was available for mutation recurrence analysis. Results We identified two germline de novo mutations in CBL in two out of the four trio probands, two girls presenting with an infancy-onset severe MMA. Both mutations were predicted to alter the ubiquitin ligase activity of the CBL protein that acts as a negative regulator of the RAS pathway. These two germline CBL mutations have previously been described in association with a developmental Noonan-like syndrome and susceptibility to juvenile myelomonocytic leukaemia (JMML). Notably, the two mutated girls never developed JMML and presented only subtle signs of RASopathy that did not lead to evoke this diagnosis during follow-up. Conclusions These data suggest that CBL gene screening should be considered in early-onset moyamoya, even in the absence of obvious signs of RASopathy.

Published
2016

6. Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

Author

Ulrich Abel, Céline Bellesme, Denice Mittelstaedt, Christof von Kalle, Bruno l’Homme, Gabor Istvan Veres, Nizar Mahlaoui, Najiba Lahlou, Patrick Aubourg, Ina Kutschera, Stéphane Blanche, Emmanuel Payen, Salima Hacein-Bey-Abina, Laure Caccavelli, Manfred Schmidt, Marina Cavazzana-Calvo, Liliane Dal-Cortivo, Nathalie Cartier, François Lefrère, Philippe Leboulch, Muriel Audit, Michel Vidaud, Pierre Bougnères, Cynthia C. Bartholomae, Veronique Kiermer, Alain Fischer, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux (Inserm U745), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Département de Biothérapie [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5), Immunologie et chimie thérapeutiques (ICT), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique (CNRS), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut des Maladies Emergentes et des Thérapies Innovantes (IMETI), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Thérapie génique et contrôle de l'expansion cellulaire (UMR E007), Immunologie, génétique et traitement des maladies métaboliques et du diabète (UMR_S 561), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire du D eveloppement Normal et Pathologique du Syst eme Immunitaire, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Saint-Vincent de Paul, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Bluebird bio, Inc, National Referral Center for Rare Epilepsies - Department of Pediatric Neurology, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Nature Publishing Group, Nature Publishing Group, New York, Oregon State University (OSU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institute for Radiological Protection and Nuclear Safety, Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux ( Inserm U745 ), Institut des sciences du Médicament -Toxicologie - Chimie - Environnement ( IFR71 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL ( ENSCP ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Immunologie et chimie thérapeutiques ( ICT ), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut des Maladies Emergentes et des Thérapies Innovantes ( IMETI ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Thérapie génique et contrôle de l'expansion cellulaire ( UMR E007 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Immunologie, génétique et traitement des maladies métaboliques et du diabète ( UMR_S 561 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Ecole Nationale Supérieure de Chimie de Paris- Chimie ParisTech-PSL (ENSCP)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP]-Université Paris Descartes - Paris 5 (UPD5)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Transplantation Conditioning, Genetic enhancement, CD34, Gene Expression, ATP Binding Cassette Transporter, Subfamily D, Member 1, Cell therapy, Mice, 0302 clinical medicine, Transduction, Genetic, Adrenoleukodystrophy, Child, ComputingMilieux_MISCELLANEOUS, 0303 health sciences, Multidisciplinary, Fatty Acids, Hematopoietic Stem Cell Transplantation, Hematopoietic stem cell, Brain, Cell Differentiation, 3. Good health, Haematopoiesis, medicine.anatomical_structure, Disease Progression, Female, Microglia, Stem cell, Virus Integration, Genetic Vectors, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Transplantation, Autologous, 03 medical and health sciences, medicine, Animals, Humans, Cell Lineage, 030304 developmental biology, [ SDV.BC ] Life Sciences [q-bio]/Cellular Biology, Genetic Therapy, Myeloablative Agonists, medicine.disease, Hematopoietic Stem Cells, Hematopoiesis, Transplantation, Immunology, HIV-1, Leukocytes, Mononuclear, ATP-Binding Cassette Transporters, 030217 neurology & neurosurgery
Abstract

Slowing Brain Disease with Gene Therapy X-linked adrenoleukodystrophy (ALD), the hereditary brain demyelinating disorder that was featured in the movie “ Lorenzo's Oil ,” is typically treated by transplantation of bone marrow from matched donors. This treatment slows progression of the disease by introducing cells that differentiate into myelin-producing cells. Cartier et al. (p. 818 ; see Perspective by Naldini ) tested an alternative gene therapy–based approach in two young patients without matched donors. A lentiviral vector was used to introduce a wild-type copy of the ALD gene into the patients' hematopoietic stem cells ex vivo. The modified cells were then infused back into the patients. Expression of the transferred gene was still detectable in the patients' blood cells 2 years later, and both patients showed neurological improvement and a delay in disease progression comparable to that seen with bone marrow transplants.

Published
2009
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