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
- Madrid, SpainSee the site
Where in Spain
- Hospital 12 de Octubre- MadridMadrid, SpainTaking people
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?
Trial 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.