Natural History Study of Patients With HPDL Mutations

Status Recruiting

Clinical Trial Summary

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

Clinical Trial 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 Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05848271
Study type	Observational
Source	University of California, San Diego
Contact	Eun Hae Lee
Phone	8582460547
Email	gleesonlab@health.ucsd.edu
Status	Recruiting
Phase
Start date	May 1, 2023
Completion date	December 31, 2024

View Details

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