The POLG Foundation
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
This is a multi-centre, Multi-country Prospective Observational Natural History study designed to bridge the gap between genetic diagnosis and therapeutic development for POLG-related disorders. These mitochondrial conditions are rare. This study utilizes a prospective, longitudinal design which allows researchers to track the "phenotypic evolution" of the disease over several years, providing the high-quality baseline data that regulatory agencies like the FDA require to evaluate the success of future drug interventions. clinical parameters such as the Newcastle Mitochondrial Disease Scale (…
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…