NCT05848271Recruiting
Natural History Study of Patients with HPDL Mutations
University of California, San Diego
Start Date
5/18/2023
Completion Date
12/31/2027
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.
Eligibility Criteria
Age Range: No minimum to No maximum
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
Interventions
OTHER
Patient Registry
OTHER
Dry blood spots sampling
Conditions
Mitochondrial EncephalomyopathiesHereditary Spastic ParaplegiaSpastic ParaplegiaWhite Matter DiseaseNeonatal EncephalopathyMutationGenetic Disease
Locations
Eun Hae Lee
San Diego, California 92093
United States