International Bloom Syndrome Registry

The International Bloom Syndrome Registry collects detailed, disease-specific natural history data about individuals with Bloom syndrome and Bloom-like syndromes (including those with mutations in TOP3A, RMI1, and RMI2). These conditions are collectively referred to in the IBSR as “Bloom syndrome” for the purpose of research and data harmonization.  

The goal of the IBSR is to advance scientific understanding of Bloom syndrome, identify trends in diagnosis and disease progression, support the development of evidence-based care guidelines, and accelerate research into future treatments. By compiling clinical, genomic, and patient-reported data over time, the registry enables researchers and clinicians to study how Bloom syndrome presents and evolves across a wide range of individuals and geographies. 

 Registry questionnaires use validated survey instruments and standardized data elements to ensure high-quality, research-ready data. They cover a broad range of topics, including: 

• Socio-demographics 

• Medical history and diagnostic journey 

• Treatment history and disease progression 

• Cancer surveillance, treatment, and outcomes 

• Management of care and care coordination 

• Health-related quality of life 

• Psychological and social impacts 

• Genomic and electronic health record data 

• Caregiver experience and burden 

• Voice recordings, photos, and other media to aid phenotypic characterization 

We are interested in sharing our data with you! If you would like access to the IBSR data for a research project, please contact our registry administrator at ibsr@bloomsyndromeassociation.org for more information. Access to IBSR data is contingent upon project approval by the International Bloom Syndrome Registry Advisory Board.