The NR2F1 Foundation is announcing the launch of a new BBSOAS Patient Registry this summer on the Across Healthcare Matrix Platform. The NR2F1 Foundation, established in 2018, is on a mission to empower families and individuals living with rare NR2F1 gene mutations through education, awareness, and research.
How Matrix Platform for rare diseases started
Jason Colquitt is CEO of Across Healthcare, which he founded in 2012 to envision, design, and deliver innovative technology solutions to organizations across the healthcare continuum. Jason also lives with a rare mitochondrial disorder and in 2019, he received a clear vision to use his experiences and technical background to help the rare disease community. Thus, Matrix was born.
It is Jason’s and Across Healthcare’s hope and desire to use the Matrix platform to help care for and cure rare diseases. Jason states, “We are thrilled that the NR2F1 Foundation has decided to use Matrix as their first-ever patient registry! Several other organizations are coming over to us from Backpack and we are making many exciting changes and additions to Matrix to accommodate their needs.”
NR2F1 Made History with First BBSOAS Patient Registry
On March 10, 2021, after months of preparation, the NR2F1 Foundation made history with the first and only patient registry for those living with the rare disease Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), caused by NR2F1 gene mutations. The registry was launched on the web-based health data management platform Backpack Health.
Just 24 hours later, Konica Minolta Precision Medicine, Inc. (KMPM), the parent company of Backpack Health, announced it was shutting down the functionality of groups (i.e. registries run by foundations and organizations for patient-led research). The NR2F1 Foundation, along with dozens of other groups and the hundreds of patients they serve, was left in the lurch and forced to start all over again from ground zero.
Stephanie Fountain, Vice President and Co-Founder of the NR2F1 Foundation, is a BBSOAS parent who spent months preparing the NR2F1 group page while caring for her medically complicated daughter. Stephanie stated, “The demise of Backpack Health was a big setback to our efforts in furthering BBSOAS research because the app could have been an incredibly useful health management tool for our families.”
“It was heartbreaking and infuriating at the same time, but we are moving forward and are determined to bring our patient registry back to life,” says Carlie Monnier, President, and Co-Founder of the NR2F1 Foundation and a BBSOAS mom.
Within days of this devastating news, the NR2F1 Foundation went into action and began the process of finding a new platform. With the help of Dr. Terry Jo Bichell, Executive Director of COMBINEDBrain, which the NR2F1 Foundation is a member of, the Foundation learned of Across Healthcare’s Matrix Platform. Dr. Bichell states, ”COMBINEDBrain had endorsed several health data collection platforms for our member organizations, including Backpack and Matrix. I will always be grateful to Across Healthcare for jumping in and picking up all the pieces dropped by KMPM. Our member organizations represent devastating rare diseases and any delay could have impacted real people, real families, and real children with the disorders they want to treat.”
Capabilities of Across Healthcare’s Matrix Platform
The NR2F1 Foundation is impressed with the capabilities of the Matrix platform, including the daily health management tool, which can track important activities like seizures, and provide medication reminders. Matrix can also be used by English, Spanish, French, German, Portuguese, and Italian speakers with more languages to be available in the future.
Carlie states, “In light of the situation, Jason and his team are working hard to make our transition to Matrix as smooth as possible. We see the light at the end of the tunnel and we’re looking forward to launching the new BBSOAS patient registry this summer! This will be so helpful for individuals and families of those living with NR2F1 gene mutations.”
