RARE Daily

RARE-X Launches Pompe Consortium

December 7, 2023

Rare Daily Staff

RARE-X, Global Genes’ research program and data-sharing platform, launched The Pompe Consortium, 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 that 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 Global Genes, which publishes RARE Daily. “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.

The Pompe Consortium participants include Sanofi, Astellas, Charlie’s Garden, Grants 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.

This consortium will create efficiencies that will allow RARE-X 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.

“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,” said Ryan Colburn, a Pompe disease advocate and an organizer of The Pompe Consortium. “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.”

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