Clinical Research Directory
Browse clinical research sites, groups, and studies.
Back to Studies
RECRUITING
NCT05848271
Natural History Study of Patients with HPDL Mutations
Sponsor: University of California, San Diego
View on ClinicalTrials.gov
Summary
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Official title: A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
50
Start Date
2023-05-18
Completion Date
2027-12-31
Last Updated
2025-03-30
Healthy Volunteers
No
Conditions
Interventions
OTHER
Patient Registry
Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.
OTHER
Dry blood spots sampling
Dry blood splots require 500nl of blood.
Locations (1)
Eun Hae Lee
San Diego, California, United States