AMDA Webinar Program

Title: What Do Your Pompe Test Results Really Mean? The Evolution of Pompe Diagnostics: Past, Present, and Future
Date: Thursday, August 20, 2026
Time: 1 p.m. CT / 2 p.m. ET
Speaker:
Deeksha Bali, PhD, FACMG
Summary:
This webinar examines Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. diagnosis in the newborn screening era, drawing on lessons learned since implementation and the growing challenge of novel variants identified each year. It highlights the role of CRIM testing, GAA enzymeA protein that helps the body carry out chemical reactions. and mutationA change in a gene that can affect how it works. analysis, and urine Hex4 biomarkerA measurable sign in the body that helps track disease progression or treatment response. testing in achieving early, accurate diagnosis. The talk underscores an urgent need for a validated, disease-specific functional assay to characterize variants of unknown significance and support their reclassification, benefiting newly diagnosed patients. It also points to the promise of understanding Pompe disease’s molecular mechanisms to predict disease onset and progression and guide treatment decisions, an unmet need for patients identified through newborn screening.