A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• 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)
Locations
United States
California
Eun Hae Lee
RECRUITING
San Diego
Contact Information
Primary
Eun Hae Lee
gleesonlab@health.ucsd.edu
8582460547
Time Frame
Start Date: 2023-05-18
Estimated Completion Date: 2027-12-31
Participants
Target number of participants: 50
Treatments
HPDL deficiency
Patients with HPDL mutations
Related Therapeutic Areas
Sponsors
Collaborators: Heinrich-Heine University, Duesseldorf, New York University, Universität Tübingen
Leads: University of California, San Diego