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Blau Syndrome International Registry

Help Shape the Future of Blau Syndrome Research & Care

What is the Blau Syndrome International Registry?

The Blau Syndrome International Registry is a groundbreaking effort to gather essential information about the experiences, symptoms, and needs of patients living with Blau Syndrome. This secure, global registry will provide patients, researchers, doctors, and advocates with invaluable insights into this rare disease, helping us better understand its progression and identify the most effective treatments.

By contributing your story, you’re not only helping your own child or family member but also helping countless others across the globe who face the challenges of Blau Syndrome. Together, we can build a clearer picture of the disease—and drive medical research forward to improve care and outcomes.

The Cure Blau Syndrome Foundation has partnered with Coordination of Rare Diseases at Sanford (CoRD), a non-profit research institution coordinating the advancement of research into more than 10,000 rare diseases.

What Does the Registry Collect?

When you join the Blau Syndrome International Registry, you’ll provide vital information, including:

  • Symptoms: What symptoms have you or your loved one experienced?

  • Genetic Testing Outcomes: Have you received genetic testing? Share your results to contribute to our understanding of the disease.

  • Treatments: What treatments have you tried? What’s working? What’s not?

  • Co-existing Health Conditions: Help us map other conditions that commonly appear alongside Blau Syndrome.

  • Specialists & Procedures: Which medical specialists and procedures have been most helpful?

  • Family Health History: Share your family's health history to help us better understand the genetic aspects of the disease.

  • Quality of Life: How has Blau Syndrome impacted your day-to-day life? This helps researchers identify areas where care and support are most needed.

Who Can Join?
If you or your child has been diagnosed with Blau Syndrome, you can join the registry. Whether you’re newly diagnosed or have been managing the disease for years, every piece of information counts in our effort to understand Blau Syndrome. Please complete only one registry entry per patient. 

How to Register (it’s easy!)

  1. Enrollment Form: Complete the enrollment activation form and review the informed consent. 

  2. Complete the Questionnaire: Share as much detail as possible about your or your child's experience with Blau Syndrome. All data is securely stored and anonymized.

  3. Stay Involved: You will be asked to update the questionnaire annually.

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