Natural History Study of Patients with HPDL Mutations

Part of paid clinical trials in San Diego, California.

Sponsor
University of California, San Diego
Study ID
NCT05848271
Status
Recruiting
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Conditions

  • Genetic Disease
  • Hereditary Spastic Paraplegia
  • Mitochondrial Encephalomyopathies
  • Mutation
  • Neonatal Encephalopathy
  • Spastic Paraplegia
  • White Matter Disease

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Patient Registry — OTHER
    Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.
  • Dry blood spots sampling — OTHER
    Dry blood splots require 500nl of blood.

Study Details

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

Key Dates

Start date
May 18, 2023
Status verified
Mar 2025
Primary completion
Dec 31, 2026
Completion
Dec 31, 2027

Study Design

Enrollment
50 participants (estimated)

Arms

  • Arm: HPDL deficiency
    Patients with HPDL mutations

Primary Outcome Measure

Clinician questionnaire [ Time Frame: 12 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Eun Hae LeeSan DiegoCalifornia92093
Eun Hae Lee
[email protected]
8582460547

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Eun Hae Lee· San Diego, CA

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