Natural History Study of Patients with HPDL Mutations

Recruiting

• Conditions: Mutation; Spastic Paraplegia; White Matter Disease; Neonatal Encephalopathy; Mitochondrial Encephalomyopathies; Hereditary Spastic Paraplegia; Genetic Disease
• Interventions: Other: Patient Registry; Other: Dry blood spots sampling

• Registration Number: NCT05848271
• Lead Sponsor: University of California, San Diego

Brief 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.

Study Timeline

• Study First Submitted: 2023-04-28
• Study First Submitted QC: 2023-04-28
• Study First Posted: 2023-05-08
• Study Start: 2023-05-18
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-25
• Last Update Posted: 2025-03-30
• Primary Completion: 2026-12-31
• Study Completion: 2027-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Any individuals diagnosed with HPDL variants

• Clinical diagnosis can include:

  • HPDL-related hereditary spastic paraplegia (HSP)
  • HPDL-related neonatal mitochondrial encephalopathy
  • Spastic paraplegia -83 (SPG83)
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)

Exclusion Criteria

• Any known genetic abnormality (other than HPDL mutation)
• Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
HPDL deficiency	Patient Registry	Patients with HPDL mutations
HPDL deficiency	Dry blood spots sampling	Patients with HPDL mutations

Primary Outcome Measures

Name	Time	Method
Clinician questionnaire	12 months	Clinician-reported clinical and genetic confirmation of HPDL mutations

Trial Locations

Locations (1)

Eun Hae Lee; 🇺🇸 San Diego, California, United States