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Following how POLG mitochondrial disease changes over time

Observes how POLG-related mitochondrial disease progresses in people over time.

Key facts

Who runs it
The POLG Foundation
Where
Sydney, AustraliaSee the siteAlso in 8 other countries, 20 sites
Trial code
Registry title
Prospective Natural History Study of POLG Disease
Status
Recruiting
People taking part
300 people, planned
Started
17 Jun 2026
Expected to end
17 Jun 2031
Type of study
Observational
Record updated
15 September 2026

Who can take part

AI summary

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

The registry criteria, word for word

Show all 8 criteriaShow less

Who can take part

  • 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

Who cannot take part

  • 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

Where in Australia

Also in 8 other countries, 20 sites

  • Prince of Wales Hospital, SydneySydney, AustraliaContact: PIONEERNot yet recruiting

About the trial

What the trial wants to find out

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

The group in the trial

  • 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.

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Global Prospective Natural History Study of POLG Disease
Plain-language title
Following how POLG mitochondrial disease changes over timeGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 12 November 2026.
Record updated
15 September 2026