title: Emerging treatments for pediatric leukodystrophies.
abstract: The leukodystrophies are a heterogeneous group of inherited disorders with broad clinical manifestations and variable pathologic mechanisms. Improved diagnostic methods have allowed identification of the underlying cause of these diseases, facilitating identification of their pathologic mechanisms. Clinicians are now able to prioritize treatment strategies and advance research in therapies for specific disorders. Although only a few of these disorders have well-established treatments or therapies, a number are on the verge of clinical trials. As investigators are able to shift care from symptomatic management of disorders to targeted therapeutics, the unmet therapeutic needs could be reduced for these patients.
authors.affiliation: Department of Neurology, Children's National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA; Center for Genetic Medicine Research, Children's National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA.
authors.forename: Guy
authors.initials: G
authors.lastname: Helman
authors.affiliation: Department of Neurology, Lucile Packard Children's Hospital, Stanford University School of Medicine, 730 Welch Rd, Palo Alto, CA 94304, USA.
authors.forename: Keith
authors.initials: K
authors.lastname: Van Haren
authors.affiliation: Department of Integrated Systems Biology, George Washington University School of Medicine, 2150 Pennsylvania Ave NW, Washington, DC 20037, USA.
authors.forename: Maria L
authors.initials: ML
authors.lastname: Escolar
authors.affiliation: Department of Neurology, Children's National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA; Center for Genetic Medicine Research, Children's National Health System, 111 Michigan Avenue, Northwest, Washington, DC 20010, USA; Department of Integrated Systems Biology, George Washington University School of Medicine, 2150 Pennsylvania Ave NW, Washington, DC 20037, USA. Electronic address: avanderv@childrensnational.org.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
mesh_terms: D002648:Child; D002986:Clinical Trials as Topic; D023281:Genomics; D005838:Genotype; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D059906:Neuroimaging; D010641:Phenotype; D011788:Quality of Life
keywords: Disease modifying; Gene therapy; Genomics; Leukodystrophy; Stem cell; Symptomatic; Therapy