Global Insight Creates Change
The Barth Syndrome Foundation is proud to introduce BarthINSIGHTS, the most comprehensive global patient registry and biorepository for Barth syndrome. BarthINSIGHTS collects data about our community’s experiences, symptoms, and disease progressions in a secure database. These insights can shape research, inform regulatory pathways for drug development, and demonstrate the unmet needs of our global community, all while delivering insights directly back to families who participate.
Participation is simple: take a few minutes to create an account and consent, upload a proof of diagnosis, and fill out user-friendly surveys about your experiences and symptoms related to Barth syndrome. In 2026, we relaunched the registry with enhanced security and a better experience for our families.
New users
Returning users
Researchers and healthcare professionals, please email Melissa Huang to discuss access.
Questions? We have answers!
What is a patient registry?
A patient registry is a collection of standardized information about a community of people who share a condition or experience. Registries allow researchers and families to identify patterns and understand how Barth syndrome progresses. In communities as small as ours, every single voice makes a difference!
What is BarthINSIGHTS?
BarthINSIGHTS is a secure database that brings together information related to Barth syndrome: health experiences, symptoms, quality of life, and biological samples from the global Barth community — all in one place, dedicated to advancing our understanding of Barth syndrome. If you participated in previous iterations of the Barth Registry and Repository, your data has been moved to BarthINSIGHTS, and you can continue contributing through this new platform.
Why should I join?
Enrolling in BarthINSIGHTS means your experiences and health information become part of a growing, global knowledge base that directly fuels our community’s understanding of and research into Barth syndrome. The registry is one of the best ways we can capture the information only you know: the experiences and symptoms that might not otherwise become part of our collective understanding of Barth syndrome. It places family voices at the center of the research about us.
Who will benefit from the registry data?
You! All families who participate will be able to see aggregated, de-identified data about Barth syndrome. Participating families can look to data-backed trends to understand their or their loved ones’ symptoms.
Researchers, regulators, and clinicians will be able to request access to de-identified registry data to understand what Barth syndrome is and how it affects our community. They might use this data to shape new research questions, pursue specific avenues for treatment research, or make regulatory decisions around new therapies.
What types of things do I do if I join?
You can participate in the way that feels best to you. There are a few ways to share data once you’ve joined:
- Complete short, modular surveys (you can see how many questions there are before you start, and you don’t have to complete them in one sitting)
- Track your symptoms, activities, and experiences
- COMING SOON (2027): Upload or link your medical records
Is there a new version of the registry? I heard about or participated in the Barth Registry and Repository.
Yes! BarthINSIGHTS is the new version of our registry and repository. Here’s what improved:
- Real-time insights
See how your responses compare to the de-identified global Barth community as you complete your record. Insights are current: you’ll see how your experiences compare to real-time data. - Symptom journal and tracking
Log symptoms, activities, and health events over time. Your longitudinal personal record lives alongside your contributions to support your care and to advance science. - Easier to complete
Surveys are now broken into short, bite-sized modules, and each one is labeled with an estimated completion time. Your progress saves automatically, and your prior responses carry forward at each annual update. No more starting from scratch.
What enhancements can I expect in the future?
We will evolve BarthINSIGHTS as technology changes. We’re currently working on these features, which we plan to launch in 2027:
- Connect or upload your medical records
United States contributors at participating health systems will be able to connect their electronic medical records directly to their BarthINSIGHTS account securely. For contributors outside of participating health systems, including those outside of the United States, we are working on a secure system to extract information from uploaded PDF records. - Multi-language support
We are working to make BarthINSIGHTS available in Italian, French, and additional languages so that participation is truly accessible to families around the world.
How do I join?
Joining BarthINSIGHTS is easy. If you have never participated in our registry, there are four steps:
- Create your account: Register here if you are a new user and follow the prompts to create a new account and consent to joining.
- Upload your proof of diagnosis: A copy of your genetic test results or clinical diagnosis confirmation.
- Complete your base surveys: Short, modular surveys covering your medical history, symptoms, quality of life, and family background. Work at your own pace — your progress saves automatically.
- Check back annually or when a new opportunity pops up: We’ll send reminders for you to update your record each year. Prior answers carry forward — you only need to note what's changed.
If you have previously enrolled in the Barth Registry and Repository (BRR), please follow this link to log in to BarthINSIGHTS.
Will my care team have access to the registry?
Your care team will be able to access as much or as little of your registry information as you choose.
Is this a time commitment?
This is a time commitment – one we believe is worthwhile. We expect your first set of surveys to take at least an hour, but we have updated the process so that your responses carry forward each year to make future surveys less time consuming. Your time is valuable, and families are partners in the process. We’ve designed BarthINSIGHTS to be easy and flexible for participants, and we encourage you to participate to whatever degree you’re able.
What is the biorepository? Is it part of BarthINSIGHTS?
Some things about Barth syndrome can only be learned by studying biological specimens, so BarthINSIGHTS also banks donated samples, such as blood or tissues. When paired with the registry’s data about symptoms and experiences, these samples can help researchers discover biomarkers, test potential drugs or treatments, and determine how Barth syndrome affects people differently. Currently, BSF houses blood samples from affected individuals at the Van Andel Institute.
Participation in the repository component of BarthINSIGHTS is optional. Your contributions are significant even if you do not participate in the repository.
Is my data secure and private?
Your data is secure on the registry platform, and it is HIPAA, GDPR, and FISMA compliant. Any data that is shared with external researchers or regulators is de-identified using a code called a Global Unique Identifier (GUID) [‘Learn more about GUIDS here’/link to GUID page].
Only BSF research staff and platform administrators have access to your identifiable data.
If you provide permission, your de-identified data (using your GUID) may be shared with others — such as researchers, clinicians, pharmaceutical/biotechnology companies, advocacy groups, or non-profit organizations — to help the scientific and medical community better understand Barth syndrome.
There is a formal process to access de-identified data, governed by BSF’s institutional/ethics review board, and each application is thoroughly vetted by BSF’s research staff.
Who can I talk to with questions?
You can reach out to Melissa Huang. We're so glad you're interested!
