NCT07775872 · The POLG Foundation
Prospective Natural History Study of POLG Disease
(PIONEER)
What this study is about
The PIONEER study is a forward-looking, 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.
View original scientific description
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.
Primary outcome measures
Scale for the Assessment and Rating of Ataxia (SARA)
Time frame: Baseline through 36 months (every 12 months)
The Scale for the Assessment and Rating of Ataxia (SARA) is a clinical scale that is based on a semi-quantitative assessment of cerebellar ataxia on an impairment level. Total scores range from 0 to 40. Higher scores indicate greater ataxia severity.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- male \& female from age 0 to 75.
- A genetically confirmed POLG -associated disorder based on both phenotype and genotype is required.
- Parental/guardian permission (informed consent) and if appropriate with child assent.
Exclusion criteria
- Diagnosis of mitochondrial disorder other than POLG
- Subject with POLG Variant of unknown significance or benign variant.
- Parents/guardians or subjects who, in the opinion of the investigator, may be non-compliant with the study schedules or procedures.
- Subjects unable or unwilling to provide informed consent.
- History of or current clinically important condition other than what is related to the PMD which, in the opinion of the Investigator will confound the results of the NHS.
Where
- San Diego, California
- Aurora, Colorado
- New York, New York
- Akron, Ohio
- Philadelphia, Pennsylvania
- Dallas, Texas
- Houston, Texas
Collaborators
Jeeva Clinical Trials Inc, ClinTrek Research Private Limited, United Mitochondrial Disease Foundation (UMDF)
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Sep 15, 2026 · Source of record for eligibility and locations