Natural History Study of Patients with HPDL Mutations

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-05-18

Study Completion Date

2027-12-31

Brief Summary

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

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Detailed Description

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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.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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HPDL deficiency

Patients with HPDL mutations

Patient Registry

Intervention Type OTHER

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

Dry blood spots sampling

Intervention Type OTHER

Dry blood splots require 500nl of blood.

Interventions

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Patient Registry

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

Intervention Type OTHER

Dry blood spots sampling

Dry blood splots require 500nl of blood.

Intervention Type OTHER

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No