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Diseases Studied

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

All Diseases > Mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome

Alternative Names: mtDNA Depletion Syndrome

Disease Category: Mitochondrial Disorders

A term characterizing a group of inherited disorders in which copies of the DNA (genetic material) within mitochondria (specialized cell structures that produce energy) are severely reduced in number. This results in impaired energy production required for proper functioning of the body's tissues and organs. These disorders primarily affect the brain, liver, digestive system, nerves, and skeletal muscles.

Research groups studying this disease

Mitochondrial Disorders
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North American Mitochondrial Disease Consortium (NAMDC)

Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.

Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.