Observing the natural history of patients with HPDL mutations
A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
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 |
|---|---|
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | University of California, San Diego Academic / other |
| Locations | 1 site (San Diego, California) |
| Trial ID | NCT05848271 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study include individuals diagnosed with HPDL variants, such as those with hereditary spastic paraplegia or neonatal mitochondrial encephalopathy.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
San Diego, California
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.