THE BRR GETS AN UPGRADE: We’ve partnered with Matrix by Across Healthcare (registry platform) and Van Andel Institute (biorepository) to improve the BRR for participating families and researchers. The upgraded BRR has an improved user experience with bite-size surveys, electronic medical record integration for U.S. enrollees, additional language support, and ancillary features like a diary, symptom log, and sharing center for patients to share information with clinicians. The BRR is currently in beta-testing. Stay tuned for when we launch in Summer 2026. Thank you for your patience and support during this transition! For questions or if you are interested in being a beta tester, reach out to Melissa Huang (melissa.huang@barthsyndrome.org).
What is the Barth Syndrome Registry and Repository?
The Barth Syndrome Registry and Repository (BRR) is a secure database that collects information about people living with Barth syndrome. It brings together patient-reported health information, electronic medical records, genetic test results, and biological samples from affected individuals and families around the world -- all in one place, dedicated to advancing our understanding in Barth syndrome.
Why your participation matters.
The BRR isn't just a database — it's a research engine. The information collected helps scientists design better studies, supports the development of new treatments, and gives regulators the real-world evidence they need to make decisions about therapies for Barth syndrome. When you enroll, you're not just sharing data. You're helping drive the science forward for every person affected by this condition.
What's involved?
Joining is straightforward. Participants can register, give consent, and share information such as genetic test results, biological samples, and responses to surveys about symptoms, quality of life, medical history, and family background. Starting in 2026, participants in the U.S. can also choose to have their medical records connected directly to the registry.
Protecting your privacy.
Data that is shared with researchers is not linked to your identity, we use a de-identified ID system called the GUID (Global Unique Identifier) to protect your privacy. Once you are enrolled in the registry and your information is confirmed, you can obtain a Research GUID ID card. This is your unique ID that will allow you to maximize your contributions to Barth syndrome science by allowing researchers to share your data amongst the scientific community, all while protecting your privacy.
