Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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 > Canavan disease
Canavan disease
Alternative Names: CD
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the ASPA gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Early symptoms of CD in infancy may include increased head size, weakness, low muscle tone, and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily, and difficulty eating solids or swallowing liquids.
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
National Tay-Sachs and Allied Diseases Association
NTSAD is one of the oldest patient advocacy groups in the country, focused on funding research, providing support services to families and individuals worldwide, and raising awareness to prevent disease.
The Canavan Foundation
The Canavan Foundation is a not-for-profit organization dedicated to educating at-risk populations about Canavan disease and other Jewish genetic diseases and supporting research looking into a cure.