Emerging treatments for pediatric leukodystrophies

Pediatr Clin North Am. 2015 Jun;62(3):649-66. doi: 10.1016/j.pcl.2015.03.006. Epub 2015 Apr 8.


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.

Keywords: Disease modifying; Gene therapy; Genomics; Leukodystrophy; Stem cell; Symptomatic; Therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child
  • Clinical Trials as Topic
  • Genomics
  • Genotype
  • Hereditary Central Nervous System Demyelinating Diseases / diagnosis*
  • Hereditary Central Nervous System Demyelinating Diseases / genetics
  • Hereditary Central Nervous System Demyelinating Diseases / therapy*
  • Humans
  • Neuroimaging
  • Phenotype
  • Quality of Life