Welcome!

The International Bloom Syndrome Registry (IBSR) is an online registry for people with Bloom syndrome or Bloom-like syndrome (collectively referred to as Bloom syndrome). It is sponsored by the Bloom Syndrome Association (BSA) and hosted by the U.S.-based National Organization for Rare Disorders (NORD®) on their IAMRARE® platform. This registry will collect information from participants (or their authorized representatives) who are affected by Bloom syndrome.  

Whether you are living with Bloom syndrome, are a parent, caregiver, or family member of someone affected, your participation in this registry contributes to advancing our collective knowledge and shaping the future of Bloom syndrome research and treatment. 

What is a Patient Registry? 

A patient registry is a collection of standardized information about a group of individuals who share a medical condition. Registries help researchers and clinicians better understand rare diseases by tracking how they affect people over time. The IBSR is a tool for change: it helps guide clinical research, develop new care guidelines, and support future treatment studies. The International Bloom Syndrome Registry aims to: 

• Support the design of clinical trials for future Bloom syndrome therapies 

• Describe how Bloom syndrome presents across different individuals 

• Understand how Bloom syndrome evolves over time 

• Document real-world experiences with treatments, side effects, and care 

• Identify best practices to improve quality of life 

• Connect participants with researchers studying Bloom syndrome (only if you choose to be contacted) 

In future phases, allow Participants to give permission for clinicians to contribute clinical information directly to the Registry. 

 

What types of data will be collected in the International Bloom Syndrome Registry?   

The IBSR collects data across a broad range of topics to create a complete picture of how Bloom syndrome affects individuals and families: 

• Socio-demographics 

• Medical history and diagnostic journey 

• Treatment history and disease progression 

• Cancer history and surveillance practices 

• Existing genetic testing results, if available 

• Management of care and healthcare access 

• Quality of life and emotional well-being 

• Caregiver experience and burden 

• Participation in research or clinical trials 

• Optional photos, voice recordings, medical records, genetic reports, laboratory reports, pathology reports, imaging reports, and other medical documents 

In future phases, Participants may be offered additional options, such as clinician-entered data, electronic health record data capture, or genetic/genomic testing. These features will be added only after any required IRB review and approval. 

Every story shared makes a difference – and together, we can move Bloom syndrome research forward. 

Is the data secure? 

The International Bloom Syndrome Registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which means that the data is encrypted when being sent from the user’s browser to the NORD servers. The data is also kept encrypted in the NORD database. Communications between the registry platform application server and the database are also encrypted. As with any information one provides electronically, there is a very rare chance that privacy could be compromised. However, the registry and the security measures minimize the chance of this occurring. 

Video links:  

What is a Registry? 

Janet Woodcock, Former Director CDER FDA on NORD Registry Program