RecruitingNCT05848271
Natural History Study of Patients with HPDL Mutations
A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
Sponsor
University of California, San Diego
Enrollment
50 participants
Start Date
May 18, 2023
Study Type
OBSERVATIONAL
Conditions
Summary
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Eligibility
Inclusion Criteria6
- 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 Criteria2
- 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
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Interventions
OTHERPatient Registry
Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.
OTHERDry blood spots sampling
Dry blood splots require 500nl of blood.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05848271
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