Gene therapy in advanced metachromatic leukodystrophy: tempering expectations  

作　　者：Daphne H.Schoenmakers Shanice Beerepoot Laura A.Adang Marije A.B.C.Asbreuk Caroline G.Bergner Annette E.Bley Jaap-Jan Boelens Valeria Calbi Alejandra Darling Erik Eklund Ángeles García Cazorla Sabine W.Grønborg Samuel Groeschel Peter M.van Hasselt Carla E.M.Hollak Claire Horgan Simon Jones Tom de Koning Lucia Laugwitz Caroline Lindemans Pascal Martin Fanny Mochel AndreasØberg Dipak Ram Caroline Sevin Ludger Schöls Ayelet Zerem Nicole I.Wolf Francesca Fumagalli 

机构地区：[1]Department of Child Neurology,Amsterdam Leukodystrophy Center,Amsterdam UMC Location Vrije Universiteit Amsterdam,Emma’s Children’s Hospital,Boelelaan 1117,Amsterdam,The Netherlands [2]Amsterdam UMC,Vrije Universiteit Amsterdam,Department of Cellular and Molecular Mechanisms,Amsterdam Neuroscience,De Boelelaan 1117,Amsterdam,The Netherlands [3]Medicine for Society,Platform at Amsterdam UMC Location University of Amsterdam,Meibergdreef 9,Amsterdam,The Netherlands [4]Division of Neurology,Children’s Hospital of Philadelphia,Philadelphia,PA 19104,United States [5]Leukodystrophy Center,Clinic for Neurology,University hospital Leipzig,04103 Leipzig,Germany [6]University Children’s Hospital,University Medical Center Hamburg Eppendorf,20251 Hamburg,Germany [7]Department of Pediatrics,Stem Cell Transplantation and Cellular Therapies Program,Memorial Sloan Kettering Cancer Center,New York,NY 10065,United States [8]San Raffaele Telethon Institute for Gene Therapy(SR-TIGET),Pediatric Immunohematology Unit,IRCCS San Raffaele Scientifc Institute,Via Olgettina,60,Milan 20132,Italy [9]Metabolic Unit,Neurology Department,Sant Joan de Déu Children´s Hospital,Barcelona,Spain [10]Section for Pediatric Neurology,Skåne University Hospital and Clinical Sciences,Lund University,Lund 22184,Sweden [11]Department of Pediatrics and Adolescent Medicine and Department of Clinical Genetics,Center for Inherited Metabolic Diseases,Copenhagen University Hospital Rigshospitalet,Copenhagen,Denmark [12]Department of Paediatric Neurology and Developmental Medicine,University Children’s Hospital,Tübingen,Germany [13]Department of Metabolic Diseases,University Medical Center Utrecht,Utrecht,The Netherlands [14]Department of Endocrinology and Metabolism,Amsterdam UMC Location AMC,Amsterdam UMC,Meibergdreef 9,University of Amsterdam,Amsterdam,The Netherlands [15]Department of Paediatric Bone Marrow Transplant and Cellular Therapy,Royal Manchester Children’s Hospital,Manchester University NHS Foundation Trust,United Kingdom [16]Genomic

出　　处：《Protein & Cell》2025年第1期12-15,共4页蛋白质与细胞(英文版)

摘　　要：Recently Zhang et al.(2024) published their study entitled “Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: A long-term follow-up pilot study.” The authors present three metachromatic leukodystrophy(MLD) patients treated with gene therapy and claim stabilization or even improvement, despite advanced symptomatic disease stage. The metachromatic leukodystrophy initiative(MLDi)(Schoenmakers et al., 2022), an international collaborative network and registry for MLD, urges caution in interpreting these results, as the evidence raises several critical concerns. These claims risk fostering false hope among MLD patients and their families, particularly given the significant gaps in the data provided(Fig. 1).

关 键 词：DYSTROPHY STABILIZATION 

分 类 号：R741[医药卫生—神经病学与精神病学] R450[医药卫生—临床医学]