SETBP1 Society Joins RARE-X to Increase Visibility in Research Community

Austin, TX — October 25, 2022 – In partnership with RARE-X, SETBP1 Society is expanding its efforts in natural history studies to expedite research by creating a readily available pool of data on SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorder. Ownership of this natural history data and data access control is retained by the families of those diagnosed.

Historically, data collection had been done primarily in institutions like MIT and Harvard to be used exclusively for their own research. This created insurmountable barriers to access the data due to the institution regulations and, in some cases, their findings were not published. As a result of these limitations, the burden had then been placed on the families of those diagnosed to continually collect and provide data for potential studies themselves.

RARE-X is a non-profit organization that enables patient communities to collect their data globally and connects it to researchers, clinicians and drug developers via their open-access platform. Researchers worldwide can query the data not only by disease or genetics but also by symptom. By making this de-identified longitudinal data readily accessible to the research community, RARE-X is solving many of the early challenges of natural history studies. Additionally, RARE-X creates the opportunity for researchers and drug developers to uncover diseases they’ve never heard of which may qualify for their existing or upcoming studies. The goal of this partnership is to inform and enable research partners by providing structured data for future clinical trials, as well as, to reduce the time it takes to study potential treatments and make them available to our community.

“RARE-X is honored to support the SETBP1 community’s critical work. The RARE-X goal is to make it easier for the SETBP1 community to collect patient data and for researchers to find that data,” said RARE-X CEO Charlene Son Rigby. “Our approach supports what many stakeholders in rare disease research have requested – research-grade, research-ready, patient-reported, real-world evidence that is consented by patients to be shared.”

This partnership has fueled a feeling of hope and excitement with the SETBP1-HD community. Erin Otness had sought out answers for nearly a decade before her son, John, had been formally diagnosed with SETBP1-HD. “​​Data is power. For ultra-rare disorders such as SETBP1-HD, having a scaffold to collect information which will be available to researchers and scientists worldwide is exciting,” Erin said. “ If our participation in RARE-X attracts the interest of a scientist who eventually makes a therapeutic breakthrough, it will absolutely be worth it.”

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about our partnership with RARE-X: https://rare-x.org/

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org