Summary

Location
at UCSD
Dates
study started
completion around
Principal Investigator
by Joseph Gleeson (ucsd)

Description

Summary

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

Official Title

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

Details

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.

Keywords

Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease, Neonatal Encephalopathy, Mutation, Genetic Disease, HPDL, HPDL related neonatal mitochondrial encephalopathy, HPDL related hereditary spastic paraplegia, Spastic paraplegia-83, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Muscle Spasticity, Brain Diseases, Paraplegia, Leukoencephalopathies, Inborn Genetic Diseases, Dry blood spots sampling, HPDL deficiency

Eligibility

You can join if…

  • 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)

You CAN'T join if...

  • 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

Location

  • Eun Hae Lee accepting new patients
    San Diego California 92093 United States

Lead Scientist at University of California Health

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Diego
Links
website for patient registration
ID
NCT05848271
Study Type
Observational
Participants
Expecting 50 study participants
Last Updated