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 56
Spastic paraplegia 56
Alternative Names: SPG56
Disease Category: Spastic Paraplegia
Spastic paraplegia type 56 (SPG56) is a rare, autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in CYP2U1. It is characterized by early-onset progressive spasticity, most often affecting the lower limbs, with variable involvement of the upper limbs, cognition, and sensory pathways.
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)
Genetic Cures for Kids Foundation
Genetic Cures for Kids Inc (GC4K) is a not-for-profit charity run by a volunteer board. Every dollar raised goes explicitly to rare disease research programs and clinical trials to find cures for rare diseases. GC4K's first program is committed to finding a cure for SPG56.