RecruitingNot Applicable

Natural History Study of Patients with HPDL Mutations

United States50 participantsStarted 2023-05-18

Plain-language summary

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

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Clinician questionnaire

Timeframe: 12 months

Trial details

NCT IDNCT05848271

SponsorUniversity of California, San Diego

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-12-31

Contact for this trial

Eun Hae Lee

8582460547 gleesonlab@health.ucsd.edu

View on ClinicalTrials.gov More Mitochondrial Encephalomyopathies trials

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.