The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 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)
The PGB2 (Phenotype-Genotype and Biomarker) Study of the CReATe Consortium will prospectively and systematically study approximately 300 patients with amyotrophic lateral sclerosis (ALS) or a related neurodegenerative disorder such as ALS-frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and multisystem proteinopathy (MSP). The study is broadly inclusive, enrolling patients with both familial and sporadic forms of disease. All enrolled patients will undergo five in-person evaluations at one of the CReATe consortium clinical sites as well as annual remote evaluations. In-person evaluations will include motor, cognitive and functional assessments as well as collection of biological fluids. Remote evaluations will focus on functional status and disease staging. Family members of patients with apparently sporadic disease (i.e. no family history) may also participate through a remote-evaluation process in which they provide limited information about their medical history as well as biological samples (blood and urine). Every effort will be made to integrate study procedures into multi-disciplinary clinic visits to minimize the burden of participation on patients and their families.