RARE-X Marks a Year of Accomplishments

Since launching its first rare disease communities last June, RARE-X, the collaborative platform for global rare disease data sharing and analysis, has made significant gains in transforming the data landscape to improve the diagnosis and treatment of rare disease.

During the past year, the organization named bioinformatics executive and patient advocate Charlene Son Rigby as CEO, forged a series of critical partnerships, and established a corporate advisory council including 12 leading rare disease drug developers. At the same time, the use of the platform by rare disease patient organizations has been growing. 

The number of rare disease organizations enabled by the RARE-X platform now totals 34 groups across 24 rare diseases. In addition, a new slate of rare disease organizations began collecting data on the platform this month. This new set of organizations will include a collaboration with the Rare and Undiagnosed Network and other undiagnosed groups to enable data collection for undiagnosed patients. 

“We are moving with speed, but also deliberately to ensure that the data on the RARE-X platform is standardized, robust, and research-ready,” said Charlene Son Rigby, CEO of RARE-X. “We are removing the burden of governance, cost, and complexity of data gathering and data sharing for patient organizations to advance the diagnosis and treatment of rare disease while ensuring patients are always in control of their data.”

Patients that use RARE-X own their data and have complete control over who has access to it and how it is used, reflecting the organization’s core belief that when patients are empowered as data owners, it benefits everyone in the rare disease ecosystem.

To date, all of the individual participants who have contributed their data to the RARE-X platform said they want to share their data with researchers. Of those, 83 percent said they are interested in sharing medical health records as well.

From the beginning, RARE-X has ensured that the data collected is verified as usable and sharable for researchers and others working on treatments and cures. For rare diseases, where patient populations are small, data must be consistently collected and structured, or there won’t be enough quality data to be useful for research. The types of data patients contribute to RARE-X and who has access to that data are at the discretion of participants. 

RARE-X has developed short, modular participant surveys to standardize information, analyze diseases for commonalities, and ease the burden on patient participation. In February, RARE-X added more than 20 new surveys to its platform. These surveys extend across different biological systems and cover issues such as growth, behavior, and pregnancy. RARE-X continues to expand the number of surveys through a deliberate process which includes expert workgroups to ensure the data is of the highest possible value to researchers.

In addition to these surveys, RARE-X has developed modules for informed consent, data-sharing interests, and general information. This approach gives participants control of their data and their preferences regarding who may use their data. As a result, participants can easily change their preferences without requiring extensive paperwork and expense. 

During the past year, RARE-X has entered into or expanded several collaborations to scale its efforts. These collaborations include health technology companies Huma and Ciitizen to interconnect with the RARE-X platform; the nonprofit Critical Path Institute to improve ways researchers access and analyze patient data and to share learnings supporting standardization of data models; the Broad Institute of MIT and Harvard to leverage technology to improve data access, analysis, and sharing, and supporting Global Genes patient communities with access to education and technology to collect data, share data, and drive research.

RARE-X has also become an essential source of thought leadership within the rare disease community. It has published a series of white papers, reports, and case studies showcasing the power of data sharing and patient-powered research. Topics have ranged from the use of non-proprietary patient-owned data collection to enable the future of cell and gene therapies, to recommendations for DEI strategies for rare disease organizations. RARE-X recently published the Power of Being Counted Report which reveals previously severely undercounted numbers used for decades to define rare diseases and help shape policies and biomedical discovery.

Building on its progress to date, RARE-X has begun planning for upcoming events. These events include a RARE-X Exchange Forum September 14 – 15 for RARE-X platform users, future RARE-X patient communities, and patient community research partners. RARE-X is also organizing an Open Data Science Challenge early next year.

“We have been successful at winning financial support from industry, government, and nonprofit contributors who recognize that we can reduce the burdens on patients while building larger datasets to help researchers make breakthroughs that benefit people with rare diseases,” said Nicole Boice, founder and executive director of RARE-X. “The funding has been critical for advancing our efforts, but it is also a recognition that patient communities don’t have the resources and expertise to do alone what we can all do better collectively.” 

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