We recently wrapped up a powerful collaboration with Costello Medical — through the Pro Bono Call for Rare Disease Organizations — that supported the development of critical tools needed to unite the APBD and the broader GSD IV community.
In March 2025, we proudly concluded a successful and meaningful collaboration with Costello Medical, a global leader in medical communications, after several months of working together. Through their “Pro Bono Call for Rare Disease Organizations” initiative, they helped us develop a strategic communications and action plan to strengthen connections between APBD and the broader GSD IV community.
APBD (adult polyglucosan body disease), the late-onset form of GSD IV, and Andersen Disease, the early-onset form, both stem from variants in the GBE1 gene, which cause a deficiency in glycogen branching enzyme (GBE) and lead to the buildup of harmful polyglucosan bodies. While they differ in age of onset and clinical symptoms, they represent two ends of the same spectrum. Understanding this continuum is key to building a unified, empowered community capable of building strength in numbers to advance awareness, research and therapies in development forward.
With support from Costello Medical, we hosted two workshops to unite voices across the GSD IV spectrum. Together, we developed a strategic communications plan and roadmap for continued collaboration. These discussions resulted in valuable recommendations and clear initiatives focused on:
- strengthening bonds between early- and late-onset GSD IV communities
- raising public awareness of GSD IV conditions
- improving healthcare provider education
- expanding opportunities for patient engagement in research
Some initiatives build upon work already underway, including sharing powerful patient and caregiver stories to highlight the real-world impact of GSD IV and the urgent unmet needs our community faces. Most recently, community member Amber courageously shared the journey she and her daughter Mia navigated in their diagnostic odyssey. Other initiatives represent exciting new directions, including the creation of advocacy toolkits designed to empower both healthcare professionals and individuals living with GSD IV.
We’re deeply grateful to the incredible team at Costello Medical, including Lillian Dukes, Maddy Block, Marielle Brown, and Matt Domanico, for their expertise, curiosity, and commitment to learning about GSD IV and supporting our goals. We also extend heartfelt thanks to our passionate and dedicated community, whose insights and perspectives made this collaboration so much more impactful. We look forward to bringing these recommendations to life and continuing to grow a more connected, informed, and empowered GSD IV community.