Imagine a disease that stealthily incapacitates the heart, liver, and skeletal muscles—slowly breaking them down due to the absence of a crucial protein. That's the story of Pompe disease, also known as glycogen storage disease type II (GSDII). Caused by a gene mutation that blocks the body’s ability to break down glycogen, Pompe leads to a harmful buildup of sugar, disrupting the architecture of vital organs.
On a global scale, Pompe disease affects approximately 2.0 cases per 100,000 live births, making it a rare yet significant condition. The late-onset form tends to be more common than the early neonatal type. Across the 7 major markets (7MM)—the US, EU4 (Germa...
