At a glance
ClinicalIndex Comparison Record- ✓Symptom onset before age 18 years
- ✓Age under 30 years
- ✓Genetically confirmed HSP variant or relative of confirmed case
- ✕Lack of HSP diagnosis and/or no relation to individual with confirmed diagnosis
Standardized by ClinicalIndex from the ClinicalTrials.gov record · verify against the source.
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
In Brief
An observational study for Hereditary Spastic Paraplegia and 10 related conditions. Currently recruiting, targeting 700 participants across 1 site.
Detailed Summary
The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in HSP related genes and/or be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into the registry for studies will advance knowledge of the causes, clinical course, diagnosis, and treatment of these conditions.