Natural History Study of Patients with HPDL Mutations
Recruiting
Observational Study
Mitochondrial Encephalomyopathies
Hereditary Spastic Paraplegia
Spastic Paraplegia
White Matter Disease
Neonatal Encephalopathy
Mutation
Genetic Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 50 (estimated)
- Sponsor
- University of California, San Diego · Other
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About This Trial
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* 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 spast…
Contacts