Observing the natural history of patients with HPDL mutations
Official title: A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
Run by University of California, San Diego · NCT05848271 · Data updated 2026-11-12
This study is trying to learn more about people with HPDL mutations and their related mitochondrial diseases by collecting health information and blood samples to see how these conditions change over time.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | University of California, San Diego Academic / other |
| Locations | 1 site (San Diego, California) |
| Status | Recruiting |
| Started | May 18, 2023 |
| Main results expected | December 31, 2026 |
| Study ends | December 31, 2027 |
| Registry record updated | March 30, 2025 |
| Trial ID | NCT05848271 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study include individuals diagnosed with HPDL variants, such as those with hereditary spastic paraplegia or neonatal mitochondrial encephalopathy.
✕Probably not a fit
Patients with known genetic abnormalities other than HPDL mutations or those with conditions that may pose undue risk are unlikely to benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to establish a patient registry for individuals diagnosed with HPDL mutations, which are linked to various mitochondrial diseases. By collecting and analyzing medical records and longitudinal data, the study seeks to understand the natural history of these conditions and explore genotype-phenotype correlations. Additionally, dry blood spots will be collected to develop biomarkers that could enhance understanding of the disease's progression and characteristics.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the natural history of HPDL-related conditions, potentially leading to improved diagnosis and management strategies for affected patients.
How similar studies have gone: While this study focuses on a specific genetic mutation, similar observational studies have successfully established patient registries for other rare genetic conditions, suggesting potential for meaningful insights.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
Eun Hae Lee
San Diego, California, United States Recruiting
Study contacts
- Principal investigator: Joseph Gleeson — UCSD
- Study coordinator: Eun Hae Lee
- Email: gleesonlab@health.ucsd.edu
- Phone: 8582460547
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.