Press Releases

RARE-X Launches Pompe Consortium to support patient owned data collection and aggregated data sharing with patient community, biopharma and research collaborators

December 6, 2023

ALISO VIEJO, CALIFDecember 06, 2023

RARE-X, Global Genes’ research program and data-sharing platform, today announced the launch of The Pompe Consortium. The Pompe Consortium is a group representing a cross section of participants from the rare disease ecosystem, including individuals with rare diseases, advocacy organizations, biopharmaceutical companies, and academic researchers. The consortium will provide steering for a collaboration with RARE-X which is designed to enable improved Pompe disease ecosystem health by pooling the high-quality data needed to develop new knowledge that advances understanding, research and development of therapies in support of people living with Pompe disease

The Pompe Consortium is the second consortium RARE-X has launched with both industry and advocacy collaborators.

“The Pompe Consortium will help define a new model for the way rare disease patient-owned data is gathered, shared, connected and used,” said Charlene Son Rigby, CEO of RARE-X. “By working together, the participants in The Pompe Consortium recognize they will be able to access greater amounts of data, significantly reduce the cost of collecting and maintaining it, and reduce the burden on patients who want to share their health information to advance the development of new therapies.”

Pompe disease is a lysosomal storage disorder in which an enzyme deficiency results in an accumulation of a stored form of sugar in specific parts of cells in the body. The consequence can be tissue damage, for example to muscles, the heart, and other organs. The disease was first identified in 1932, and the first treatment for the condition, an enzyme replacement therapy, was approved by the U.S. Food and Drug Administration in 2006. There continues to be a need to better understand the disease to improve diagnosis and develop new treatments that support
patients who still experience progression as well as access challenges throughout the world.

“We think the experience with Pompe offers an opportunity (and responsibility) to create a path for other diseases and build out a scalable model to show what pooling patient owned data looks like – and what it can do! Additionally, we can show how modernized roles and relationships between different players can create new experiences that support the ecosystem health and will accelerate discoveries,” said Ryan Colburn, a Pompe disease advocate and an organizer of The Pompe Consortium.

The Pompe Consortium includes the participation of biopharmaceutical companies and patient advocacy organizations, as well as academic researchers. They include Sanofi, Astellas, Charlie’s Garden, Grant’s Giants, New Zealand Pompe Network, Pompe Alliance, Pompe Warrior Foundation, Marshall’s Mountain, Rykers Foundation, Pompe AWay, and additional Pompe advocates and investigators.

As with all data collection efforts leveraging the RARE-X platform, patients own their data and control who will have access to it through a novel data governance structure. The goal is to add and interconnect as much relevant data as possible and enable the broadest usage possible.

Patient engagement is a cornerstone in the rare disease world, where patients who want to advance research recognize the opportunity in sharing their data and responding to questionnaires from multiple researchers (even though they are asked overlapping sets of questions). However, this can be a time-consuming process that’s difficult for patients and caregivers, who may be juggling multiple demands at once. It is also often difficult for researchers to pool meaningful amounts of data due to the challenges with access and reach for individual studies.

The RARE-X platform is designed to ensure its members will gather and share high-quality, compliant data, while improving efficiencies, for each role involved. Participants sharing data leveraging the RARE-X platform, through novel data governance, can ensure their data will be put to broad use, to advance the understanding of Pompe disease and drive the development of new therapies forward.

This consortium will create efficiencies that will allow us to improve the quality and volume of data provided by patients and ease access for patients who would like to participate in research and have yet to do so.

About RARE-X
RARE-X is a program of Global Genes focused on supporting the acceleration and development of life-altering treatments and future cures for patients impacted by a rare disease. Enabled by best-in-class technology, patients, researchers, and other technology vendors, RARE-X gathers
structured, fit-for-purpose data to share broadly, benefitting from 21st-century governance, consent, and federated data-sharing technology. Through RARE-X, Global Genes is building the largest collaborative patient-driven, open-data access project for rare diseases globally. For more information, visit

About Global Genes
Global Genes is a 501(c)(3) nonprofit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of that mission, Global Genes connects, empowers, and inspires the rare disease community to stand up, stand out,
and become more effective on their own behalf ⁠— helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases.

Global Genes serves more than 400 million people around the globe, and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the Resource Hub.

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