Natural History Study of Patients with HPDL Mutations

University of California, San Diego50 enrolled

Overview

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

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

Conditions

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

Interventions

Patient RegistryOTHER

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

Dry blood spots samplingOTHER

Dry blood splots require 500nl of blood.

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Eun Hae Lee

San Diego, California, United States

RECRUITING

Outcomes

Primary Outcomes

Clinician questionnaire

Clinician-reported clinical and genetic confirmation of HPDL mutations

Time frame: 12 months

Central Contacts

Eun Hae Lee

CONTACT

8582460547 gleesonlab@health.ucsd.edu

Data from ClinicalTrials.gov

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