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.
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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)
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!
EuroHSP Foundation
EURO-HSP is a federation of national associations related with a rare disease called hereditary spastic paraplegia or Strümpell-Lorrain disease. The federation was made up during the project Rare! Together from EURORDIS.
HSP Research Foundation
The HSP Research Foundation was created in 2005 to find an effective treatment for the hereditary spastic paraplegias (HSPs). The Foundation is an incorporated, registered Australian charity that facilitates and funds research to find effective treatments and cures. The Foundation is also the community hub for people with HSP in Australia, creating awareness and providing information, education and support.
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.
Tom Wahlig Foundation
The Tom Wahlig Foundation is an independent welfare foundation whose aim is to support research in the field of familial spastic spinal paralysis as well as provide support for patients and families affected by this disease. Familial spastic spinal paralysis refers to a group of rare inherited neurological spinal cord disorders characterized by progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. Serving people in Germany, the UK, France and Austria, the foundation will sponsor symposiums to support researchers.