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 Adult Polyglucosan Body Disease (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.
Watch the recordings from researchers who spoke at the Focus Group here.
According to scientific literature, just 200 cases of APBD and 146 cases of GSD IV have been diagnosed worldwide. Given patient reports of their lengthy diagnostic odyssey and multiple misdiagnoses, we assert that both groups of patients are likely underdiagnosed.
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.
Felix Nitschke, PhD — a basic science researcher at UT Southwestern Medical Center and co-chair of our Foundation’s Scientific and Medical Advisory Board — shared, “The fact that APBD and GSD IV are essentially different manifestations of the same biochemical problem provides a powerful argument for the patient communities to join forces and face the battle against glycogen branching deficiency diseases together.”
The first challenge to convening the Focus Group was to identify and connect with GSD IV families and community members living around the globe. We accomplished that by partnering with Humanized Solutions, a Portugal-based company that supports healthcare stakeholders by implementing solutions co-created with the patient voice.
During the Focus Group’s first session, participants heard from patients and their physicians about the challenges in the diagnostic journey, as well as from researchers about the link between APBD and GSD IV, global genetic prevalence, natural history studies, and clinical practice resources. These presentations built on the Focus Group’s narrative — building community, and strength and power in numbers.
The Focus Group’s second session was set up as a Q&A panel discussion among GSD IV and APBD family members, patients, and leaders of patient advocacy organizations. The 12-person panel was moderated by Vanessa Ferreira, PhD, MBA, co-founder of Humanized Solutions, and a leader in the Congenital Disorders of Glycosylation community. The panelists discussed the challenges to receiving a correct diagnosis; the importance of helping families connect with each other, health professionals, and patient advocacy organizations; and the need for stronger global collaborations. The Focus Group is seen as a launching pad for strengthened collaborations among APBD and GSD IV community members as we work toward making therapies a reality.
The APBD Research Foundation and Humanized Solutions developed a 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.
