@article{fb7681ae08c5452dba163140095effe5,
title = "Disease specific therapies in leukodystrophies and leukoencephalopathies",
abstract = "Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches. Recently, a greater understanding of the pathologic mechanisms associated with leukodystrophies has allowed clinicians and researchers to prioritize treatment strategies and advance research in therapies for specific disorders, some of which are on the verge of pilot or Phase I/II clinical trials. This shifts the care of leukodystrophy patients from the management of the complex array of symptoms and sequelae alone to targeted therapeutics. The unmet needs of leukodystrophy patients still remain an overwhelming burden. While the overwhelming consensus is that these disorders collectively are symptomatically treatable, leukodystrophy patients are in need of advanced therapies and if possible, a cure.",
keywords = "Care, Consensus, Leukodystrophy, Outcomes, Prevention, Therapy",
author = "{behalf of the GLIA Consortium} and Guy Helman and {Van Haren}, Keith and Bonkowsky, {Joshua L.} and Genevieve Bernard and Amy Pizzino and Nancy Braverman and Dean Suhr and Patterson, {Marc C.} and {Ali Fatemi}, S. and Jeff Leonard and {van der Knaap}, {Marjo S.} and Back, {Stephen A.} and Stephen Damiani and Goldman, {Steven A.} and Asako Takanohashi and Magdalena Petryniak and David Rowitch and Albee Messing and Lawrence Wrabetz and Raphael Schiffmann and Florian Eichler and Escolar, {Maria L.} and Adeline Vanderver",
note = "Funding Information: KVH: Supported by grants from the Lucile Packard Foundation (salary support) and the Child Neurology Foundation (research and salary support); received institutional salary support from bluebird bio, Inc. as part of an observational clinical trial in ALD. JLB: Supported by the PCMC Foundation , NIH DP2 MH100008 , March of Dimes Foundation research grant, and the Vanishing White Matter Foundation . GB: GB has received a Research Scholar Junior 1 of the Fonds de Recherche du Qu{\'e}bec en Sant{\'e} (FRQS). She has received a research operating grant from the Fondation sur les Leucodystrophies , the Fondation du Grand Defi Pierre Lavoie , Genome Canada and the Canadian Institutes of Health Research (CIHR). GB reports the following pharmaceutical support: Actelion Pharmaceuticals (research, travel expenses, consulting), Shire (research, travel expenses, consulting), Genzyme (consulting), Cathena (consulting). MCP: Funding: Actelion Pharmaceuticals , NINDS ( U54NS065768-02 ) and the National MS Society . Consulting: Actelion Pharmaceuticals , Agios , Amicus , Cydan , Genzyme , Shire , StemCells, Inc .; research grant: Actelion Pharmaceuticals . SB: Supported by grants from the National Institutes of Health and StemCells Inc. AV: Supported by grants from the National Institutes of Health , the National Institute of Neurologic Disorders and Stroke ( 1K08NS060695 ) and the Myelin Disorders Bioregistry Project . Funding Information: The GLIA consensus meeting was funded in part by a grant from the Departments of Neurology and Genetics of the Children's National Health System and the members of the Leukodystrophy Alliance . Guy Helman received support from the Delman Fund for Pediatric Neurology Education and Research. Funding Information: The authors wish to acknowledge the patients and families affected by leukodystrophies for their courage and inspiration. We also thank the Leukodystrophy Alliance for their support. The roles of GH, AP and AV were supported by the Neurology Department of the Children's National Health System and the Myelin Disorders Bioregistry Project . GB has received a Research Scholar Junior 1 of the Fonds de Recherche du Qu{\'e}bec en Sant{\'e} (FRQS). She wishes to thank the Montreal Children's Hospital and McGill University Health Center Research Institutes , the R{\'e}seau de M{\'e}decine G{\'e}n{\'e}tique Appliqu{\'e}e (RMAG), the Fondation sur les Leucodystrophies , the Fondation du Grand D{\'e}fi Pierre Lavoie , the Fondation Les Amis D'{\'E}lliot , the Fondation D{\'e}sir{\'e}e le Papillon , Genome Canada , and the Canadian Institutes of Health Research (CIHR) for financing her research on leukodystrophies. Publisher Copyright: {\textcopyright} 2015 Elsevier Inc.",
year = "2015",
month = apr,
day = "1",
doi = "10.1016/j.ymgme.2015.01.014",
language = "English (US)",
volume = "114",
pages = "527--536",
journal = "Molecular genetics and metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "4",
}