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Natural History Study of Patients with HPDL Mutations

NCT05848271 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-03-30

No results posted yet for this study

Summary

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

Conditions

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

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.

Sponsors & Collaborators

  • New York University

    collaborator OTHER

  • Universität Tübingen

    collaborator OTHER

  • Heinrich-Heine University, Duesseldorf

    collaborator OTHER

  • University of California, San Diego

    lead OTHER

Principal Investigators

  • Joseph Gleeson · UCSD

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-05-18
Primary Completion
2026-12-31
Completion
2027-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05848271 on ClinicalTrials.gov