- By Patricia Wood
June 2021
BPAN individuals and families are invited to share health information about the disorder on a new, secure platform so that researchers will have access to far more information than would otherwise be possible.
Launched Aug. 6, the RARE-X BPAN Federated Data Platform is designed to encourage data-sharing and, thus, quicken the spread of information and the pace of research into BPAN. The platform is free for families to use. Importantly, it keeps health information confidential by providing only data that is not attached to individual names. Individuals and families affected by Beta-propeller Protein-Associated Neurodegeneration (BPAN), believed to be the most common NBIA disorder, control whether to allow or deny access to their personal health information for any research project.
RARE-X BPAN asks BPAN families about their experiences with the condition through various structured and standardized surveys on various topics which can be updated by families as needed. A researcher who is studying mitochondria, for example, can do a query for all relevant information on a specific symptom and might find similarities across various diseases that provide insights and new treatment pathways.
The platform is currently open to BPAN families who speak English. Those wishing to participate can access the site at https://bpan.rare-x.org. Translation services are not yet available, but RARE-X hopes to provide this feature in the coming year. It also plans to add more rare disorders as time goes on.
Our community has gotten in on the ground floor with RARE-X, a newly formed nonprofit, along with five other organizations that represent individuals with BPAN: Hoffnungsbaum e. V. in Germany, Stichting Ijzersterk in the Netherlands, and three BPAN-only focused organizations: BPAN Warriors in the U.S., BPAN France, and Autour du BPAN, also in France.
Rare-X was created by leaders in the fields of patient advocacy, medical research, biopharma and technology. The founder and executive director of the nonprofit is Nicole Boice who founded Global Genes.
Megan O’Boyle, patient engagement lead at RARE-X, spoke at our May family conference about the program (you can see the video here). It has closed captions enabled and can be watched in multiple languages. We are hopeful that other NBIA disorders can be added to the platform in the future.
The initiative is powered by some of the great leaders in rare disease and supported through partnerships with the Broad Institute and Harvard University. In addition, expertise is provided by the National Institutes of Health, private and commercial enterprises, academia and rare patient advocacy groups.
RARE-X provides support, technology, tools and resources necessary for successful data collection, and secure but open data sharing on a global scale. The organizers believe that by removing barriers to access and analysis, diagnosis, and disease understanding, the development of therapies for rare disorders can be accelerated.
This platform does not replace other forms of data collection that we have available in our NBIA community with BPANready, Citizen and the TIRCON International NBIA Registry & Biobank. In fact, these existing projects can be connected to the RARE-X platform and expand the data available to interested researchers.
We believe RARE-X BPAN enhances our readiness for clinical trials and engages new researchers and biotech companies. It is cloud-based and researchers can query the database in myriad ways to find data that is brought together rather than in separate silos. The de-identified data never leaves the system. Researchers can link to it but cannot download it.
We are excited about this resource and its potential to lead to faster treatments and cures.
