POLG Foundation Unites Global Community at Second Virtual Summit to Share Progress in Research and Therapeutic Development
26 June 2026 – The POLG Foundation brought together patients, families, researchers, clinicians, industry partners and advocates from around the world for its second POLG Virtual Summit, showcasing the latest advances in POLG research, therapeutic development and patient advocacy. The virtual event highlighted the Foundation’s commitment to accelerating research while ensuring patients remain central to the development of future treatments.
The summit welcomed an international audience and featured leading experts from the United States, United Kingdom, France and Italy. To improve accessibility for the global POLG community, the Foundation also piloted real-time multilingual transcription, enabling participants from different countries to engage more fully with the live programme.
The meeting opened with an update on the Pioneer Study, the prospective international natural history study for POLG disease. Delegates learned that the first participant was enrolled in June, marking a major milestone in establishing the clinical data needed to better understand disease progression and support future therapeutic trials.
Participants also received an update on the externally led FDA Patient-Focused Drug Development (PFDD) Workshop, which will take place November 17th 2026. As the first workshop dedicated to POLG disease, it will bring the experiences of patients and families directly to the U.S. Food and Drug Administration (FDA), helping ensure that the patient perspective informs future regulatory and drug development decisions.
The scientific programme showcased research funded by the POLG Foundation spanning several areas of investigation. Presentations explored the use of innovative disease models to better understand POLG biology, early progress towards gene therapy, the potential for patient-reported symptoms to improve diagnosis, and new research investigating the mechanisms underlying epilepsy in POLG disease. Together, these studies demonstrate the breadth of scientific approaches being pursued to improve diagnosis and identify future treatment strategies.
The programme also featured an update from the U.S. National Institutes of Health (NIH) on the MINI Study, which is investigating the links between metabolism, infection and immunity in inherited mitochondrial disorders, reflecting the wider collaborative research efforts across the mitochondrial disease community.
Attendees heard lessons from the development of KYGEEVY®, the first approved treatment for TK2 deficiency, and how its clinical and regulatory pathway may help inform therapeutic development for POLG disease.
The summit concluded with presentations from Mighty Therapeutics and Pretzel Therapeutics, who shared their approaches to developing treatments for primary mitochondrial diseases and discussed the scientific and regulatory considerations involved in bringing first-in-class therapies to patients.
The second POLG Virtual Summit demonstrated the growing momentum across research, clinical development and patient engagement. By bringing together patients, scientists, clinicians, regulators and industry, the POLG Foundation continues to strengthen collaboration, accelerate progress and build the foundations for future therapies for people living with POLG disease.
