Prospective Natural History Study of POLG Disease
Part of paid clinical trials in San Diego, California.
- Sponsor
- The POLG Foundation
- Study ID
- NCT07775872
- Status
- Not Yet Recruiting
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Conditions
- PolG, Primary Mitochondrial Myopathy
Eligibility Criteria
- Sex
- ALL
- Age
- N/A - 75 Years
- Healthy Volunteers
- Not accepted
Study Details
The PIONEER study is a prospective, natural history study dedicated to characterizing the clinical progression of POLG-related disorders. The research aims to bridge the gap between genetic diagnosis and drug development by mapping how these rare mitochondrial conditions evolve over time. By observing the disease's natural trajectory through a multi-center approach, The study identifies critical clinical milestones that serve as a foundation for evaluating therapeutic efficacy and future therapeutic interventions
Key Dates
- First listed
- Aug 20, 2026
- Start date
- Aug 1, 2026
- Status verified
- Aug 2026
- Primary completion
- Jun 17, 2029
- Completion
- Jun 17, 2031
Study Design
- Enrollment
- 300 participants (estimated)
Arms
- Arm: Single Observational CohortSingle Observational Cohort: Individuals (Pediatric and Adults) with genetically confirmed POLG-related disorders. No intervention is administered. Participants undergo longitudinal clinical assessments, patient-reported outcomes, biomarker collection, and review of routine clinical data.
Primary Outcome Measure
Scale for the Assessment and Rating of Ataxia (SARA) [ Time Frame: Baseline through 36 months (every 12 months) ]
Central Contacts
- PIONEER+15716094617
Locations (6)
| Facility | City | State | ZIP | Site coordinators |
|---|---|---|---|---|
| University of California San Diego | San Diego | California | 92121 | Jennifer Yang (PRINCIPAL_INVESTIGATOR) |
| Children's Hospital Colorado | Aurora | Colorado | 80045 | Austin Larson (PRINCIPAL_INVESTIGATOR) |
| Columbia University Irving Medical Center | New York | New York | 10032 | Michio Hirano (PRINCIPAL_INVESTIGATOR) |
| Akron Children's Hospital | Akron | Ohio | 44308 | Bruce Cohen (PRINCIPAL_INVESTIGATOR) |
| Baylor Hospital | Dallas | Texas | 75246 | Fernado Scaglia (PRINCIPAL_INVESTIGATOR) |
| UTHealth Houston | Houston | Texas | 77030 | Mary Kay Koeing (PRINCIPAL_INVESTIGATOR) |