Journal article
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
LA Adang, O Sherbini, L Ball, M Bloom, A Darbari, H Amartino, D DiVito, F Eichler, M Escolar, SH Evans, A Fatemi, J Fraser, L Hollowell, N Jaffe, C Joseph, M Karpinski, S Keller, R Maddock, E Mancilla, B McClary Show all
Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2017
Abstract
Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will al..
View full abstractGrants
Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development
Funding Acknowledgements
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. Additional funding includes, LB: supported by the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (Award Number UL1TR001876); GB: Research Scholar Junior 1 award from the Fonds de Recherche du Quebec en Sante (FRQS) (2012-2016) and the New Investigator Salary Award from the Canadian Institutes for Health Research (2017-2022); JLB: Supported by the PCMC Foundation, NIH DP2 MH100008, March of Dimes Foundation research grant, and the Vanishing White Matter Foundation; SHE: Supported by funding from the Hunter's Hope Foundation for Development of Clinical Practice Guidelines (CPGs); JLF: Supported by funding from the National Institutes of Health, National Institute of Child Health and Human Development via Children's National Medical Center Child Health Research Career Development Award (2K12HD001399-11) (salary and research support); EM: Endocrine Exploratory Research Fund, Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia; WR: Funded in part by the Sterol and Isoprenoid Consortium (U54HD061939) which is part of Rare Diseases Clinical Research Network, an initiative of the Office of Rare Diseases Research (ORDR), NCATS, in collaboration with the Eunice Kennedy Shriver National Institute of Child Health and Human Development; KVH: Supported by grants from the Lucile Packard Foundation (salary support) and the Child Neurology Foundation (research and salary support); AV: Supported by grants from the National Institutes of Health, National Institute of Neurologic Disorders and Stroke (1K08NS060695) and the Myelin Disorders Bioregistry Project.