Trials / Recruiting
RecruitingNCT05848271
Natural History Study of Patients with HPDL Mutations
A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
- Status
- Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 50 (estimated)
- Sponsor
- University of California, San Diego · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Detailed description
A novel mitochondrial disease arises from mutations in HPDL, which codes for 4-hydroxyphenylpyruvate dioxygenase-like protein. The main purpose of this study is to establish a patient registry to gather medical data from consenting HPDL mutation patients worldwide. From longitudinal data, we will be able to figure out the natural history of the disease, and genotype-phenotype correlation. Dry blood spots will be collected to develop biomarkers to understand the disease better.
Conditions
- Mitochondrial Encephalomyopathies
- Hereditary Spastic Paraplegia
- Spastic Paraplegia
- White Matter Disease
- Neonatal Encephalopathy
- Mutation
- Genetic Disease
Interventions
| Type | Name | Description |
|---|---|---|
| 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. |
Timeline
- Start date
- 2023-05-18
- Primary completion
- 2026-12-31
- Completion
- 2027-12-31
- First posted
- 2023-05-08
- Last updated
- 2025-03-30
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT05848271. Inclusion in this directory is not an endorsement.