Following how POLG mitochondrial disease changes over time
Observes how POLG-related mitochondrial disease progresses in people over time.
Plain-language title generated from the registry record
Registry title: Prospective Natural History Study of POLG Disease
Key facts
- Where
- Sydney, AustraliaSee the site
AI summary: who the study is looking for
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people of any sex, from birth up to age 75, who have a genetically confirmed POLG-related disorder. It follows how the disease changes over time.
- Age
- 0 to 75 years
- Sex
- All sexes can join
- Disease stage
- A POLG-associated disorder confirmed by both symptoms and genetic testing
- Biomarker or test result
- A genetically confirmed POLG-associated disorder. A POLG variant of unknown significance or a benign variant does not count.
Main reasons for not taking part
- A mitochondrial disorder other than POLG
- A POLG variant of unknown significance or a benign variant
- Likely to not follow the study schedule or procedures, in the investigator's opinion
- Unable or unwilling to give informed consent
- Another important health condition that could confuse the study results
Read by machine on 9 November 2026.
Where in Australia
- Prince of Wales Hospital, SydneySydney, AustraliaNot yet recruiting
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- The POLG Foundation
- Trial code
- NCT07775872
- Record updated
- 15 September 2026
- Original 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. 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 interventionsRead full original descriptionShow less
Global Prospective Natural History Study of POLG Disease
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
Inclusion: 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: Diagnosis of mitochondrial disorder other than POLG; 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; 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.