Actively Recruiting
Natural History Study of Patients with HPDL Mutations
Led by University of California, San Diego · Updated on 2025-03-30
50
Participants Needed
1
Research Sites
241 weeks
Total Duration
On this page
Sponsors
U
University of California, San Diego
Lead Sponsor
N
New York University
Collaborating Sponsor
AI-Summary
What this Trial Is About
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
CONDITIONS
Official Title
Natural History Study of Patients with HPDL Mutations
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals diagnosed with HPDL variants
- Clinical diagnosis including HPDL-related hereditary spastic paraplegia (HSP)
- Clinical diagnosis including HPDL-related neonatal mitochondrial encephalopathy
- Clinical diagnosis including spastic paraplegia -83 (SPG83)
- Clinical diagnosis including neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
You will not qualify if you...
- Presence of any known genetic abnormality other than HPDL mutation
- Any condition that, in the opinion of the Site Investigator, poses undue risk or prevents completion of study procedures
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Eun Hae Lee
San Diego, California, United States, 92093
Actively Recruiting
Research Team
E
Eun Hae Lee
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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