Dear Friend,

In the May 2025 newsletter, we highlight two powerful examples of momentum in research and advocacy. 

First, we explore the groundbreaking personalized treatment advances led by the n-Lorem Foundation. Although this therapy (which is still in development) is tailored to individuals who have a specific intronic mutation in the GBE1 gene, the implications are big. An “n-of-1” model, developing individualized therapies based on a patient’s unique genetic profile, opens the door to a new era in APBD care. It also catalyzes a chain reaction: encouraging patient identification and participation, building confidence, drawing interest in APBD and allied disease research, and opening the door for future treatments. 

Second, we explore the emotional complexities of a presymptomatic diagnosis. Though often difficult to discuss, this topic is becoming more urgent as our capacity to detect and eventually treat APBD evolves. Early diagnosis, while devastating, allows families to consider proactive decisions that may improve quality of life. It also helps fuel the research pipeline, providing insights which can shape and accelerate therapeutic developments. If we hope to treat APBD before symptoms emerge, before polyglucosan bodies do irreversible damage, then we must begin talking more openly about this stage of the journey.

While these two stories take center stage this month, they reflect just a small part of the larger tapestry we’re weaving together as an organization. Every initiative we undertake serves our shared mission: building momentum, expanding opportunity, and accelerating progress. This includes:

  • Joining the CombinedBrain consortium to collaborate with allied groups and fast-track research and clinical trial readiness
  • Establishing a centralized biorepository to streamline research and make precious patient samples more accessible 
  • Driving participation in our natural history study and patient registry, because the more we understand each patient’s journey over time, the better we can design clinical trials that truly meet their needs
  • Pursuing drug repurposing opportunities to create a diverse, adaptable pipeline of treatment strategies that serve patients both now and in the future
  • Uniting early- and late-onset GSD IV patients under one community umbrella to build our strongest, most inclusive coalition yet

Each of these efforts strengthens the others, creating a dynamic ecosystem that fuels discovery, deepens our impact, and steadily moves us closer to meaningful breakthroughs.

We’re seeing a surge in scientific engagement, with new researchers entering the field and submitting innovative grant proposals to serve the APBD community each year. To support this momentum, we’re expanding our fundraising capacity and investing in a dual-path approach to drug development—one that embraces both traditional models and novel, individualized strategies. This balanced approach ensures that we leave no stone unturned in our pursuit of effective, accessible therapies. Whether scientific, strategic, or community-led, every action contributes to a ripple effect of progress. Together, we’re working toward a future where APBD, early-onset GSD IV, and all GBE1 related diseases, are treatable. 

Thank you for your ongoing trust, encouragement, and partnership on this journey.

Sincerely,
Becca Reef, MS, LCGC
Scientific & Research Coordinator