We're excited to share a project that has been at the heart of our work at The POLG Foundation for some time: PIONEER, the Prospective POLG International Natural History Endeavor.

For the past year, we have been working behind the scenes with POLG experts, clinical centres, researchers and partners around the world to design and launch this study. Now that PIONEER is underway, we're pleased to tell our community about it for the first time and to invite families to learn more.

What is PIONEER?
PIONEER is an international study that follows people living with POLG disease over time. It aims to understand how the disease progresses, how it affects daily life, and which outcomes matter most to patients and families.

POLG disease affects everyone differently. Some people have symptoms early in life and others develop them later, and how severe they are and how fast they change can vary a great deal. To develop and test effective treatments, researchers first need a clear picture of how the disease progresses naturally. PIONEER is designed to provide that foundation.

PIONEER is not a clinical trial. No medicine or experimental treatment is being tested, and participants continue to receive their usual care from their own doctors.

A global effort

The POLG Foundation sponsors PIONEER, working in partnership with UMDF and the global PIONEER study sites. The study brings together patients, families, clinicians, researchers and advocacy organisations across 9+ countries and 20+ clinical sites, and plans to enrol up to 200 participants. New sites are being added over time.

Who can take part?

People of any age, children and adults, with a genetically confirmed diagnosis of POLG disease may be eligible. The study team at a participating site will confirm eligibility. Depending on the site, taking part may involve:

• sharing medical history
• completing questionnaires about symptoms and quality of life
• attending study visits or assessments

There is no cost to participate, and taking part is entirely voluntary.

Why it matters

Every participant helps researchers understand POLG disease better, design better clinical trials, and move closer to future treatments. Your experience can help shape the future of POLG care for your family and for the families who come after you.

How to learn more

1. Talk to your doctor about PIONEER and whether you may be eligible.
2. Find a study site by searching "PIONEER POLG" on ClinicalTrials.gov or visiting clinicaltrials.gov/study/NCT07775872.
3. Contact us at pioneer@polgfoundation.org with any questions or for additional information. Don't see a site near you? Get in touch, because new sites are being added.

Download the PIONEER information sheet here!

Thank you to every family, clinician and partner who has helped bring PIONEER to life. We look forward to sharing more updates as the study progresses.