Blau Syndrome International Registry
Help shape the future of Blau syndrome research and care.
If you or your child has Blau syndrome, your experience is the data researchers need most. Join a secure, global registry and help researchers finally see the whole disease.
Opens the secure enrollment form at Sanford CoRD in a new tab.
What the registry is
One place for every Blau story, from every country.
The Blau Syndrome International Registry gathers essential information about the experiences, symptoms and needs of people living with Blau syndrome. This secure, global registry gives patients, researchers, doctors and advocates insight into how the disease progresses and which treatments work best.
By contributing your story, you help your own child or family member, and you help families across the globe who face the same challenges. Together we can build a clearer picture of the disease and drive research forward to improve care and outcomes.
Our partner
Coordination of Rare Diseases at Sanford (CoRD)
The Foundation partnered with CoRD, a non-profit research institution coordinating the advancement of research into more than 10,000 rare diseases.
About the Sanford registryWhy it matters
No single clinic sees enough patients to learn from.
Blau syndrome is so rare that patients are scattered across the world. Pooling what families know about genotype, treatments and outcomes lets researchers see patterns no single clinic can.
Unlike other databases, this registry is updated over time as a patient’s condition changes. That means more accurate and timely reporting on disease outcomes and on which treatments work.
- estimated prevalence, from a Danish registry quoted by Orphanet
- 1 in 1,670,000
- people who should be living with Blau worldwide, at that rate
- 4,000+
Source: the Foundation’s note Creating a Blau Database. The question that note asked still drives us: where are they? Every new registry entry helps answer it.
What the registry collects
Seven things only you can tell researchers.
When you join, you will be asked about:
- SymptomsWhat symptoms have you or your loved one experienced?
- Genetic testing outcomesHave you had genetic testing? Your results add to our understanding of the disease.
- TreatmentsWhat have you tried? What is working, and what is not?
- Co-existing health conditionsHelp map the other conditions that often appear alongside Blau syndrome.
- Specialists and proceduresWhich medical specialists and procedures have helped most?
- Family health historyYour family's health history helps researchers understand the genetics of Blau.
- Quality of lifeHow Blau affects day-to-day life shows researchers where care and support are needed most.
How to register
Three steps, and you are part of the research.
Step 1: Enroll
Complete the enrollment activation form and review the informed consent.
Step 2: Complete the questionnaire
Share as much detail as you can about your or your child's experience with Blau syndrome. All data is securely stored and anonymized.
Step 3: Stay involved
Once a year you will be asked to update the questionnaire, so the picture stays current.
Start with the enrollment activation form at Sanford CoRD.
Who can join
Anyone diagnosed with Blau syndrome.
If you or your child has been diagnosed with Blau syndrome, you can join. Whether you are newly diagnosed or have managed the disease for years, every piece of information counts.
Please complete only one registry entry per patient.
Privacy
Your information is protected.
All registry data is securely stored and anonymized. Before you begin, you will review an informed consent that explains how your information is used.
Common questions
Before you start.
- How long does it take?
- The questionnaire asks for as much detail as you can share about your or your child's experience with Blau. Fill in what you know; every piece of information counts.
- Can I complete it for my child?
- Yes. A parent can enroll and complete the questionnaire on behalf of a child with Blau syndrome. Please complete only one entry per patient.
- I am already in another registry. Should I still join?
- Yes, please still complete this one. The Blau Syndrome International Registry is built for Blau, and it can be updated over time as a patient's condition changes.
- Who sees my data?
- Researchers working to understand and treat Blau syndrome. Your information is securely stored and anonymized, so researchers see de-identified data, not your name.
The global Blau biobank
Go one step further: donate a sample.
The registry tells researchers what Blau looks like. A blood or skin sample lets them study it in the lab. Samples go to the NIGMS Repository at Coriell, where any qualified researcher in the world can use them. There is no cost to submit.
Every dollar, every hour, every voice matters.
Rare disease research only moves when families and supporters push it. Your gift funds research directly, and your story in the registry gives scientists data they cannot get anywhere else.