Natural History Study of Patients with HPDL Mutations

March 25, 2025 updated by: Joseph Gleeson, University of California, San Diego

A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • San Diego, California, United States, 92093
        • Recruiting
        • Eun Hae Lee
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The gene HPDL has been linked to an infantile neurodegenerative condition. The affected patients have various clinical manifestations from spastic paraplegia to NEDSWMA. Severely affected patients exhibit developmental delay, seizures, and spasticity, and can lead to death.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
HPDL deficiency
Patients with HPDL mutations
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clinician questionnaire
Time Frame: 12 months
Clinician-reported clinical and genetic confirmation of HPDL mutations
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of California, San Diego

Collaborators

New York University
Heinrich-Heine University, Duesseldorf
Universität Tübingen

Investigators

  • Principal Investigator: Joseph Gleeson, UCSD

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 18, 2023

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2027

Study Registration Dates

First Submitted

April 28, 2023

First Submitted That Met QC Criteria

April 28, 2023

First Posted (Actual)

May 8, 2023

Study Record Updates

Last Update Posted (Actual)

March 30, 2025

Last Update Submitted That Met QC Criteria

March 25, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HPDL_NHS_001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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