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 83
Spastic paraplegia 83
Alternative Names: SPG83
Disease Category: Spastic Paraplegia
Spastic paraplegia type 83 (SPG83) is a juvenile-onset, autosomal recessive, predominantly pure form of hereditary spastic paraplegia caused by biallelic pathogenic variants in HPDL. Milder HPDL-associated disease manifests as SPG83, whereas more disruptive variants can lead to a severe neurodevelopmental disorder known as NEDSWMA (neurodevelopmental disorder with spasticity and white matter abnormalities).
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Recruiting
9501: Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN)
The initial phase of the SP-CERN aims to establish the center of excellence sites and organize national and international collaboration. The network will establish research infrastructure, will harmonize research protocols with international partners, connect patients and families affected by HSP, and build collaborations with partners in the biotechnology and pharmaceutical industry. The central infrastructure includes a prospective, longitudinal natural history study, a comprehensive repository of biospecimen and cell lines, and a state-of-the art genomics platform.