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Prospective Natural History Study of POLG Disease

Not Yet RecruitingN/A

Sponsor: The POLG Foundation

Conditions: PolG, Primary Mitochondrial Myopathy

Countries: United States

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

Eligibility overview

Sex: ALL

Age: — to 75 Years

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

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.

Locations (6)

San Diego, California, United States
Aurora, Colorado, United States
New York, New York, United States
Akron, Ohio, United States
Dallas, Texas, United States
Houston, Texas, United States