Prospective Natural History Study of POLG Disease

Conditions

• PolG, Primary Mitochondrial Myopathy

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

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

Jun 17, 2026

Status verified

Sep 2026

Primary completion

Jun 17, 2029

Completion

Jun 17, 2031

Study Design

Enrollment

300 participants (estimated)

Arms

• Arm: Single Observational Cohort
  Single 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
  [email protected]

Locations (7)

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