International Bloom Syndrome Registry
A global effort to advance research, improve care, and empower individuals affected by Bloom syndrome.
What is the IBSR?
The International Bloom Syndrome Registry (IBSR) is a secure, web-based research initiative led by the Bloom Syndrome Association (BSA). It is designed to help researchers better understand Bloom syndrome by collecting information directly from individuals affected by Bloom syndrome, their parents, caregivers, or other authorized representatives.
The Registry is hosted on the IAMRARE® platform, developed by the U.S.-based National Organization for Rare Disorders (NORD®), and is designed to include people of all ages from around the world.
At launch, Participants or their representatives may complete online surveys and upload existing medical records, genetic test reports, laboratory results, pathology reports, imaging reports, and other relevant documents. In future phases, the IBSR may add additional optional features, such as clinician-entered data, electronic health record data capture, and genetic/genomic testing, after any required IRB review and approval.
IBSR participation is open to:
- Individuals with Bloom syndrome or Bloom-like syndromes caused by variants in genes within the BLM complex (e.g., TOP3A, RMI1, RMI2)
- Individuals with a suspected or clinical diagnosis of Bloom syndrome, even if genetic confirmation is not yet available; and
- Individuals with Bloom syndrome or a Bloom-like syndrome who passed away within the past 10 years, through someone who had knowledge of and participated in their care.
Participation is voluntary and confidential.
Why Participate?
Bloom syndrome is ultra-rare, and every person’s experience matters. By bringing information together in one secure Registry, the IBSR can help researchers and clinicians better understand how Bloom syndrome affects people over time.
By joining the IBSR, your information may help:
- Describe how Bloom syndrome presents in different individuals;
- Track the natural history and progression of the disease;
- Study cancer types, surveillance practices, and treatment outcomes;
- Improve care guidelines through expert-led case reviews;
- Support future clinical trials and genetic research;
- Connect with researchers studying Bloom syndrome.
What Kind of Information is Collected?
Participants, parents, caregivers, or other authorized representatives may be asked to provide information about:
- Demographics and diagnostic history;
- Growth, endocrine, immune, gastrointestinal, dermatologic, developmental, and other medical features;
- Cancer diagnoses, surveillance, treatments, side effects, and outcomes;
- Existing genetic testing results, if available;
- Medications, surgeries, hospitalizations, and other treatments;
- Quality of life, daily functioning, and lived experience;
- Caregiver experience, where applicable; and
- Medical records, laboratory reports, pathology reports, imaging reports, genetic reports, photographs, or voice recordings, if you choose to upload them.
Some uploaded files, such as photographs, voice recordings, or medical records, may contain identifying information. Uploading these files is optional. Access to identifiable files will be limited and governed by the Registry’s privacy and confidentiality protections.
In future phases, the IBSR may add additional optional features, such as direct clinician-entered data, electronic health record data capture, or research-grade genetic/genomic testing. These features will be added only after any required IRB review and approval.
How is the IBSR related to cancer case review?
The BSA also supports expert review of Bloom syndrome cancer cases. Clinical case consultation may occur through a Clinical Tumor Board pathway, which is separate from the IBSR and is intended to help treating clinicians think through complex cancer care questions.
Participation in clinical case consultation does not require enrollment in the IBSR. Clinical support is not dependent on research participation.
If a person is enrolled in the IBSR and provides separate optional permission, certain cancer-related information from a Clinical Tumor Board discussion may later be entered into the IBSR for research. Once entered into the IBSR, those data are governed by the IBSR protocol, privacy protections, and Registry Advisory Board review process.
The IBSR may also use a Tumor Review Board for research purposes. The Tumor Review Board may review consented IBSR cancer data to identify patterns in cancer diagnosis, treatment, side effects, and outcomes. The Tumor Review Board is for research and does not provide medical advice or treatment recommendations.
For more Frequently Asked Questions, refer to the FAQ page: https://ibsr.iamrare.org/faqs/
Learn more or join the IBSR: https://bloomsyndromeregistry.org/