Clinical Trials for Gene Therapy in Lysosomal Diseases With CNS Involvement

by Caroline Sevin, Kumaran Deiva
Published 2021-09-01

Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice

by Emilie Audouard, Valentin Oger, Béatrix Meha, Nathalie Cartier, Caroline Sevin, Caroline Sevin, Françoise Piguet
Published 2021-05-01

An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy

by Caroline Sevin, Magalie Barth, Alexandra Wilds, Abena Afriyie, Markus Walz, Annamarie Dillon, Kenneth Howie, Francis Pang
Published 2022-09-01

Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study

by Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard, Odile Boespflug-Tanguy
Published 2023-08-01

Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy

by F. Eichler, Caroline Sevin, M. Barth, F. Pang, K. Howie, M. Walz, A. Wilds, C. Calcagni, C. Chanson, L. Campbell
Published 2022-10-01

Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy

by Emilie Audouard, Nicolas Khefif, Charlotte Mansat, Océane Nelcha, Elena-Gaia Banchi, Camille Lupiet, Dominique Farabos, Antonin Lamaziere, Caroline Sevin, Françoise Piguet
Published 2024-06-01

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

by Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron
Published 2023-07-01

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

by Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
Published 2024-02-01

Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?

by Karim Bey, Johan Deniaud, Laurence Dubreil, Béatrice Joussemet, Joseph Cristini, Carine Ciron, Juliette Hordeaux, Morwenn Le Boulc’h, Kevin Marche, Maud Maquigneau, Michaël Guilbaud, Rosalie Moreau, Thibaut Larcher, Jack-Yves Deschamps, Marion Fusellier, Véronique Blouin, Caroline Sevin, Nathalie Cartier, Oumeya Adjali, Patrick Aubourg, Philippe Moullier, Marie-Anne Colle
Published 2020-06-01

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init...

by Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf
Published 2022-02-01