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 > GPT2 deficiency
GPT2 deficiency (GPT2)
Disease Category: Spastic Paraplegia
GPT2-related neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) is a rare, autosomal recessive neurologic condition caused by biallelic pathogenic variants in GPT2. It is characterized by global developmental delay, moderate to profound intellectual disability, markedly limited or absent speech, and progressive lower-limb spasticity leading to gait impairment.
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)