NCT05848271 Natural History Study of Patients with HPDL Mutations
| NCT ID | NCT05848271 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of California, San Diego |
| Condition | Mitochondrial Encephalomyopathies |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2023-05-18 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2023-05-18 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
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
Contact & Investigator
Joseph Gleeson
PRINCIPAL INVESTIGATOR
UCSD
Frequently Asked Questions
Who can join the NCT05848271 clinical trial?
This trial is open to participants of all sexes, studying Mitochondrial Encephalomyopathies. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05848271 currently recruiting?
Yes, NCT05848271 is actively recruiting participants. Contact the research team at gleesonlab@health.ucsd.edu for enrollment information.
Where is the NCT05848271 trial being conducted?
This trial is being conducted at San Diego, United States.
Who is sponsoring the NCT05848271 clinical trial?
NCT05848271 is sponsored by University of California, San Diego. The principal investigator is Joseph Gleeson at UCSD. The trial plans to enroll 50 participants.