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 > Spastic paraplegia 3A
Spastic paraplegia 3A
Alternative Names: SPG3A
Disease Category: Spastic Paraplegia
Spastic paraplegia type 3A (SPG3A) is one of the most common early-onset forms of autosomal dominant hereditary spastic paraplegia, caused by pathogenic variants in the ATL1 gene. SPG3A typically presents as a “pure” form of HSP, characterized by progressive lower-limb spasticity and weakness beginning in early childhood.
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Carter Foundation for Neurologic Research
Kids with SPG3A was established by two families with young children who have spastic paraplegia type 3A. The two families work closely with researchers and will share research updates with other families on the Kids with SPG3A Community Platform.