A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Mitochondrial Encephalomyopathies
- Sponsor
- University of California, San Diego
- Enrollment
- 50
- Locations
- 1
- Primary Endpoint
- Clinician questionnaire
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief 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.
Investigators
Joseph Gleeson
professor, neuroscience
University of California, San Diego
Eligibility Criteria
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
Outcomes
Primary Outcomes
Clinician questionnaire
Time Frame: 12 months
Clinician-reported clinical and genetic confirmation of HPDL mutations