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 > Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP)
Disease Category: ALS and Related Disorders
A large group of around 80 inherited disorders that affect nerves that send messages to the muscles. The primary symptom is difficulty walking due to muscle weakness and spasticity (muscle rigidity) in the legs. Severity ranges from paraparesis (weakness in both legs) to complete paralysis (inability to move). Other possible symptoms include urinary incontinence, seizures, vision impairment, muscle atrophy (wasting), ataxia (lack of coordination), intellectual disability, dementia, and peripheral neuropathy (sensory loss and/or muscle weakness in the extremities).
Research groups studying this disease
ALS and Related Disorders
Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)
Spastic Paraplegia Foundation
The Spastic Paraplegia Foundation is dedicated to advancing research and finding cures for two groups of closely related, rare, and progressive neurological disorders. They are hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). These are neurological disorders affecting the voluntary muscles. The disorders are progressive and may lead to patients being unable to walk, and more.
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.
Spastic Paraplegia Foundation
The Spastic Paraplegia Foundation is dedicated to advancing research and finding cures for two groups of closely related, rare, and progressive neurological disorders. They are hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). These are neurological disorders affecting the voluntary muscles. The disorders are progressive and may lead to patients being unable to walk, and more.
CureAP4 Foundation
"Cure SPG47" was initially founded in 2016 by the families of two newly diagnosed SPG47 patients, Molly and Robbie. At the time when these two families serendipitously met on Facebook, we were aware of just 9 additional documented cases of SPG47 worldwide. No research was being conducted on the disorder and no treatment options were being explored. The chance connection of these two motivated families lead to the forming of a 501(c)3 non-profit organization dedicated to raising funds and awareness about the disorder. As we learned more about the disorder and built an impressive scientific team, we decided to expand our non-profit mission to include all four of the AP-4 adaptor complex related sub-types of hereditary spastic paraplegia (SPG47, SPG50, SPG51 and SPG52). We are eager to find out what we can accomplish with a larger number of families pulling in the same direction!
Warburg Micro Research Foundation
The Warburg Micro Research Foundation is a parent-founded nonprofit dedicated to finding treatments for Warburg micro syndrome (SPG69), a rare and progressive neurological disorder. Its mission is to accelerate research and drug development to slow disease progression and improve quality of life for affected children.
The Maddi Foundation
The Maddi Foundation is changing the path of rare disease. By working on finding a cure for SPG15 it could lead to more understanding of new ways to treat other diseases.