RecruitingMitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic Paraplegia
Natural History Study of Patients with HPDL Mutations
Eligible age
All ages
Accepts
All genders
Locations
1 state
Healthy volunteers
No
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About this study
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Sponsor: University of California, San Diego
You may qualify if…
- ✓ Any individuals diagnosed with HPDL variants
- ✓ Clinical diagnosis can include:
- ✓ HPDL-related hereditary spastic paraplegia (HSP)
- ✓ HPDL-related neonatal mitochondrial encephalopathy
- ✓ Spastic paraplegia -83 (SPG83)
- ✓ Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
You may not qualify if…
- ✕ Any known genetic abnormality (other than HPDL mutation)
- ✕ Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures
Where it's recruiting
California
San Diego
Source: ClinicalTrials.gov · NCT05848271 · last updated 2025-03-30