@article{e3501c93d0f241a3a30f384811f50ca3,
title = "Consensus statement on preventive and symptomatic care of leukodystrophy patients",
abstract = "Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients manifest many of the same symptoms and medical complications despite the wide spectrum of genetic origins. Although no definitive cures exist, all of these conditions are treatable. This report provides the first expert consensus on the recognition and treatment of medical and psychosocial complications associated with leukodystrophies. We include a discussion of serious and potentially preventable medical complications and propose several preventive care strategies. We also outline the need for future research to prioritize clinical needs and subsequently develop, validate, and optimize specific care strategies.",
keywords = "Care, Consensus, Leukodystrophy, Outcomes, Prevention, Therapy",
author = "{behalf of the GLIA Consortium} and {Van Haren}, Keith and Bonkowsky, {Joshua L.} and Genevieve Bernard and Murphy, {Jennifer L.} and Amy Pizzino and Guy Helman and Dean Suhr and Jacque Waggoner and Don Hobson and Adeline Vanderver and Patterson, {Marc C.}",
note = "Funding Information: The authors wish to acknowledge the patients and families affected by leukodystrophies for their courage and inspiration. We also wish to acknowledge the following organizations for the financial and in-kind support that helped make the 2013 GLIA meeting possible: (1) Members of the Leukodystrophy Alliance (Bethany's Hope, Hunter's Hope, MLD Foundation, Stop ALD Foundation, The M.O.R.G.A.N. Project, The Myelin Project, and The Pelizaeus-Merzbacher Disease Foundation), (2) The Department of Genetics, Children's National Health System, Washington DC, and Marshall Summar , (3) The Department of Neurology, Children's National Health System, Washington DC, and Phillip Pearl , and (4) the National Organization for Rare Disorders . The role of GH, AP, JLPM, and AV was supported by the Neurology Department at 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 RMAG (R{\'e}seau de M{\'e}decine G{\'e}n{\'e}tique Appliqu{\'e}e) , 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. Funding Information: AV: Supported by grants from the National Institutes of Health , National Institute of Neurologic Disorders and Stroke ( 1K08NS060695 ) and the Myelin Disorders Bioregistry Project . MCP: Funding: Actelion, NINDS ( U54NS065768-02 ) and National MS Society . Actelion Pharmaceuticals: Research grants; travel expenses; consulting honoraria directed to Mayo Clinic; Genzyme (Sanofi): Consulting; Amicus: Data Safety Monitoring Board; Orphazyme (Denmark): Consulting; consulting honoraria directed to Mayo Clinic; Shire Human Genetic Therapies: travel expenses; consulting honoraria directed to Mayo Clinic; Stem Cells, Inc.: Chair, Data Monitoring Committee; honorarium retained; Up-To-Date: Section Editor; royalties retained; Journal of Child Neurology: Editorial Board (no compensation); WHO International Advisory Group on revision of ICD-10: ICNA representative (no compensation); IOM Committee to Review Adverse Effects of Vaccines: member (no compensation) — completed. Funding Information: The GLIA consensus meeting was funded in part by a grant from the Departments of Neurology and Genetics at Children's National Medical Center and the members of the Leukodystrophy Alliance . Guy Helman receives support from the Delman Fund for Pediatric Neurology Education and Research . Funding Information: KV: Supported by grants from the Lucile Packard Foundation (salary support) and the Child Neurology Foundation (research and salary support). 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 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), and Cathena (consulting). AP: No relevant disclosures. DS: No relevant disclosures. SB: Supported by grants from the National Institutes of Health and Stem Cells Inc. Publisher Copyright: {\textcopyright} 2014 Elsevier Inc.",
year = "2015",
month = apr,
day = "1",
doi = "10.1016/j.ymgme.2014.12.433",
language = "English (US)",
volume = "114",
pages = "516--526",
journal = "Biochemical Medicine and Metabolic Biology",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "4",
}