What this study is
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
Study details
- Official title
- Global Prospective Natural History Study of POLG Disease
- Sponsor
- The POLG Foundation
- Conditions
- PolG, Primary Mitochondrial Myopathy
- Enrolling
- 300 people
- Starts
- 2026-06-17
- Est. completion
- 2031-06-17
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedYou may qualify if
- 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.
You can't join if
- 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.
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (21)
21 openContact for 14 of 21 open sites
- Contactpioneer@polgfoundation.org
University of California San Diego
San Diego, California, United States
- Jennifer Jennifer Yang · Contact858-246-2288jcrowhurst@health.ucsd.edu
- Danielle Black · Contact412-744-1068danielle.black@umdf.org
- Jennifer Yang · Principal investigator
Not yet recruitingChildren's Hospital Colorado
Aurora, Colorado, United States
- Austin Austin Larson · Contact303-724-2338austin.larson@childrenscolorado.org
- Danielle Black · Contact412-744-1068danielle.black@umdf.org
- Austin Larson · Principal investigator
Not yet recruitingColumbia University Irving Medical Center
New York, New York, United States
- Michio Michio Hirano · Contact212-342-5767ke4@cumc.columbia.edu
- Danielle Black · Contact412-744-1068danielle.black@umdf.org
- Michio Hirano · Principal investigator
Not yet recruitingAkron Children's Hospital
Akron, Ohio, United States
- Bruce Bruce Cohen · Contact330-543-4734Htonni@akronchildrens.org
- Danielle Black · Contact412-744-1068danielle.black@umdf.org
- Bruce Cohen · Principal investigator
Not yet recruitingChildren's Hospital of Philadelphia-Philadelphia
Philadelphia, Pennsylvania, United States
Not yet recruitingBaylor Hospital
Dallas, Texas, United States
- Fernado Fernado Scaglia · Contact713-798-4265fscaglia@bcm.edu
- Danielle Black · Contact412-744-1068danielle.black@umdf.org
- Fernado Scaglia · Principal investigator
Not yet recruitingUTHealth Houston
Houston, Texas, United States
- Mary Kay Mary Kay Koeing · Contact713-500-7201dane.r.weinig@uth.tmc.edu
- Danielle Black · Contact412-744-1068danielle.black@umdf.org
- Mary Kay Koeing · Principal investigator
Not yet recruiting
14 sites outside the US
Prince of Wales Hospital, Sydney
Sydney, New South Wales, Australia
Not yet recruitingCopenhagen University Hospital- Copenhagen
Copenhagen, Capital Region of Denmark, Denmark
Not yet recruitingChildren's Hospital, Helsinki University Hospital-Helsinki
Helsinki, Uusimaa, Finland
Not yet recruitingOulu University Hospital-Oulu
Helsinki, Uusimaa, Finland
Not yet recruitingMaastricht University-Maastricht
Maastricht, Limburg, Netherlands
Not yet recruitingOslo University Hospital
Oslo, Oslo, Norway
Not yet recruitingUniversity Hospital of North Norway - Tromsø
Tromsø, Troms, Norway
Not yet recruitingSt. Olav's Hospital-Trondheim
Trondheim, Trøndelag, Norway
Not yet recruitingHaukeland University Hospital-Bergen
Bergen, Vestland, Norway
RecruitingHospital 12 de Octubre- Madrid
Madrid, Madrid, Spain
RecruitingKarolinska University Hospital
Solna, Stockholm County, Sweden
- Karin Næs · Contactpioneer@polgfoundation.org
Not yet recruitingThe Queen Silvia Children's Hospital, University of Gothenburg
Gothenburg, Västra Götaland County, Sweden
Not yet recruitingAddenbrooke's Hospital, Cambridge University Hospitals
Cambridge, Cambridgeshire, United Kingdom
Not yet recruitingGreat Ormond Street Hospital
London, Central London, United Kingdom
Not yet recruiting
Study team
Sponsor
The POLG Foundation
Study ID PIONEER-NH-2401
Principal investigator
Amel Kaara
Harvard Medical School & Massachusetts General Hospital
Principal investigator
Omar Hikmat
Haukeland University / Bergen University
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.