NBIA NEWS & INFORMATION

June 2021

This is a year of celebration for the NBIA Disorders Associations as we mark 25 years of service to the NBIA community.

We invite everyone to attend a virtual birthday party to be held on Sept. 26 at 1 p.m. Pacific time, 4 p.m. Eastern. It will be a quick 30 minutes with appearances from key individuals and other surprises. A Zoom link for the party will be sent out to everyone on our newsletter mailing list via email and posted online in September.

Leading up to this celebration we have our 25th Anniversary Tributes underway that everyone can participate in and share with those who have made a difference in their lives. Check out our Celebration site where you can create and send a tribute to anyone: researchers, doctors, teachers, caregivers, NBIA families and individuals. Let them know how they have helped you on your journey or been an inspiration in your life. 

You can also make a donation or become a Partner in Hope as a monthly donor and help us achieve our goals and continue our mission of educating the public, providing support to families and funding research. Those making tributes and/or donations at $250 or above will be part of our 25th Anniversary Celebration Wall at either the bronze, silver, gold or platinum level.

Cheers to 25 years!

June 2021

Once again, Team NBIA Disorders has qualified for the maximum matching grant to fund BPAN research through the Million Dollar Bike Ride organized by the University of Pennsylvania's Orphan Disease Center.

BPAN researchers who are considering making a research proposal have until 8 p.m. Eastern Time Sept. 16, 2021, to submit letters of interest.

This year’s Million Dollar Bike Ride on June 12 was the 8th annual and marked the second year the event was held virtually because of the COVID-19 pandemic. But that didn’t stop Team NBIA Disorders. For the fifth consecutive year, the team won the match — $30,000 this year — making a total of $66,366 available for BPAN research.

Noah Rusch from Germany invited friends and family to ride their bikes to his home with a donation, and in turn, the family served them cold drinks and freshly baked pizza from their wood-fired oven. They received over 60 visitors bringing donations and raised over $3500 for the MDBR..

NBIA families and friends raised most of the funds in about two months, a record time frame. And for the second year, our sister organization in Germany, Hoffnungsbaum e. V., encouraged their families to help. They generously contributed $5,000 to our total.

Although UPenn's Orphan Disease Center will manage the grant, our organization is closely involved. We ensure that it matches our BPAN research priorities, and members of our Scientific & Medical Advisory Board who do not have any conflicts of interest will review the submissions, along with other ad hoc reviewers. At the completion of the grant award, we will get a report on the research to distribute to our NBIA community.

We have notified scientists in our research database about this opportunity to compete for the BPAN grant. They can visit here to submit a letter of interest. Guidelines for the request for applications (RFA) form can be found here. Those proposals will be due Oct. 18, 2021, no later than 8 p.m. (EST). Full application documents are to be uploaded on UPenn’s Orphan Disease Center website, by invitation only after submitting a letter of interest.

- 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.