Prospective Natural History Study of POLG Disease
Recruiting · NCT07775872 · Observational (researchers observe without assigning treatment)
View the official record on ClinicalTrials.gov →What this trial is about
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
Who can take part
Age range
No age limits stated
Sex
All (male and female)
Healthy volunteers
No - a diagnosis or condition is required
Phase
Not specified
Study type
Observational (researchers observe without assigning treatment)
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 it is running
21 locations listed across 6 US states.
- University of California San Diego - San Diego, California, United States
- Children's Hospital Colorado - Aurora, Colorado, United States
- Columbia University Irving Medical Center - New York, New York, United States
- Akron Children's Hospital - Akron, Ohio, United States
- Children's Hospital of Philadelphia-Philadelphia - Philadelphia, Pennsylvania, United States
- Baylor Hospital - Dallas, Texas, United States
- UTHealth Houston - Houston, Texas, United States
- Addenbrooke's Hospital, Cambridge University Hospitals - Cambridge, Cambridgeshire, United Kingdom
- Copenhagen University Hospital- Copenhagen - Copenhagen, Capital Region of Denmark, Denmark
- Great Ormond Street Hospital - London, Central London, United Kingdom
- Maastricht University-Maastricht - Maastricht, Limburg, Netherlands
- Hospital 12 de Octubre- Madrid - Madrid, Madrid, Spain
- Prince of Wales Hospital, Sydney - Sydney, New South Wales, Australia
- Oslo University Hospital - Oslo, Oslo, Norway
- Karolinska University Hospital - Solna, Stockholm County, Sweden
- University Hospital of North Norway - Tromsø - Tromsø, Troms, Norway
- St. Olav's Hospital-Trondheim - Trondheim, Trøndelag, Norway
- Children's Hospital, Helsinki University Hospital-Helsinki - Helsinki, Uusimaa, Finland
- Oulu University Hospital-Oulu - Helsinki, Uusimaa, Finland
- Haukeland University Hospital-Bergen - Bergen, Vestland, Norway
- The Queen Silvia Children's Hospital, University of Gothenburg - Gothenburg, Västra Götaland County, Sweden