The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Leukoencephalopathy
Disease Category: Mitochondrial Disorders
A term referring to disorders characterized by loss of white matter in the brain. White matter is comprised of nerves surrounded by myelin (a fatty, white, insulation). Loss of white matter results in cognitive impairments, sensory loss, and muscle weakness throughout the body. This occurs commonly in some disorders of mitochondria (specialized cell structures that produce energy) when the oxidative phosphorylation pathway, or the process that produces energy, is disrupted.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.