Natural History Study of Patients with HPDL Mutations

RecruitingOBSERVATIONAL
Enrollment

50

Participants

Timeline

Start Date

May 18, 2023

Primary Completion Date

December 31, 2026

Study Completion Date

December 31, 2027

Conditions
Mitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic ParaplegiaWhite Matter DiseaseNeonatal EncephalopathyMutationGenetic 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.

Trial Locations (1)

92093

RECRUITING

Eun Hae Lee, San Diego

All Listed Sponsors
collaborator

New York University

OTHER

collaborator

Universität Tübingen

OTHER

collaborator

Heinrich-Heine University, Duesseldorf

OTHER

lead

University of California, San Diego

OTHER