On May 6, 2024, the APBD Research Foundation hosted a virtual Focus Group that brought together, for the first time, over 50 participants representing the APBD and Glycogen Storage Disease Type IV (GSD IV) communities. The participants included patients, family members, patient advocacy organization leaders, clinicians, and researchers from 13 countries.
APBD and GSD IV are caused by mutations on the GBE1 gene, linking these two rare disease communities. A recently completed study by the Broad Institute of MIT and Harvard estimates the global genetic prevalence of all GBE1 diseases, including APBD and GSD IV, at 26,000. To advance therapeutic development, we believe it is imperative to build bridges between the APBD and GSD IV communities. Read more
You can watch the recordings from researchers who spoke at the Focus Group here. Very shortly, we will share our Summary Report that sheds light on the needs of the GSD IV community, highlights best practices from both GSD IV and APBD families and representatives, and identifies priority areas of possible near-term and future collaborations, with a goal of mutually beneficial therapeutic development.
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