Natural History Study of Patients with HPDL Mutations

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05848271

Enrollment

Registered

2023-05-08

Start date

2023-05-18

Completion date

2027-12-31

Last updated

2025-03-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Keywords

HPDL, HPDL related neonatal mitochondrial encephalopathy, HPDL related hereditary spastic paraplegia, Spastic paraplegia-83, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

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.

Interventions

OTHERPatient Registry

Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.

OTHERDry blood spots sampling

Dry blood splots require 500nl of blood.

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

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

Countries

United States

Contacts

Primary ContactEun Hae Lee

gleesonlab@health.ucsd.edu8582460547

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026