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.
authors: Department of Neurology, Children's National Health System, Washington, DC, USA.
authors: Guy
authors: G
authors: Helman
authors: Department of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA, USA.
authors: Keith
authors: K
authors: Van Haren
authors: Department of Pediatrics and Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
authors: Joshua L
authors: JL
authors: Bonkowsky
authors: Department of Pediatrics, Montreal Children's Hospital/McGill University Health Center, Montreal, Canada; Department of Neurology and Neurosurgery, Montreal Children's Hospital/McGill University Health Center, Montreal, Canada.
authors: Genevieve
authors: G
authors: Bernard
authors: Department of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA, USA.
authors: Amy
authors: A
authors: Pizzino
authors: Department of Human Genetics and Pediatrics, McGill University and the Montreal Children's Hospital Research Institute, Montreal, Canada.
authors: Nancy
authors: N
authors: Braverman
authors: MLD Foundation, USA.
authors: Dean
authors: D
authors: Suhr
authors: Department of Neurology, Mayo Clinic, Rochester, MN, USA; Department of Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors: Marc C
authors: MC
authors: Patterson
authors: The Moser Center for Leukodystrophies and Neurogenetics Service, The Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
authors: S
authors: S
authors: Ali Fatemi
authors: The PMD Foundation, USA.
authors: Jeff
authors: J
authors: Leonard
authors: Department of Child Neurology, VU University Medical Center, and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
authors: Marjo S
authors: MS
authors: van der Knaap
authors: Department of Pediatrics and Neurology, Oregon Health and Science University, Portland, OR, USA.
authors: Stephen A
authors: SA
authors: Back
authors: Mission Massimo Foundation Inc., Melbourne, VIC, Australia; Mission Massimo Foundation Inc., Los Angeles, CA, USA.
authors: Stephen
authors: S
authors: Damiani
authors: Center for Translational Neuromedicine and the Department of Neurology of the University of Rochester Medical Center, Rochester, NY, USA.
authors: Steven A
authors: SA
authors: Goldman
authors: Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA.
authors: Asako
authors: A
authors: Takanohashi
authors: Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health and Science University, Portland, OR, USA.
authors: Magdalena
authors: M
authors: Petryniak
authors: Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
authors: David
authors: D
authors: Rowitch
authors: Waisman Center and Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, WI, USA.
authors: Albee
authors: A
authors: Messing
authors: Department of Neurology, Hunter James Kelly Research Institute-HJRKI, University of Buffalo School of Medicine and Biomedical Sciences, Buffalo, NY, USA; Department of Biochemistry, Hunter James Kelly Research Institute-HJRKI, University of Buffalo School of Medicine and Biomedical Sciences, Buffalo, NY, USA.
authors: Lawrence
authors: L
authors: Wrabetz
authors: Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA.
authors: Raphael
authors: R
authors: Schiffmann
authors: Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
authors: Florian
authors: F
authors: Eichler
authors: Department of Pediatrics, University of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.
authors: Maria L
authors: ML
authors: Escolar
authors: Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address: avanderv@childrensnational.org.
authors: Adeline
authors: A
authors: Vanderver
mesh_terms: D001927:Brain Diseases / Q000517:prevention & control / Q000628:therapy; D003711:Demyelinating Diseases / Q000517:prevention & control / Q000628:therapy*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000517:prevention & control / Q000628:therapy*; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000517:prevention & control / Q000628:therapy*; D056784:Leukoencephalopathies / Q000517:prevention & control / Q000628:therapy*
keywords: Care; Consensus; Leukodystrophy; Outcomes; Prevention; Therapy