Retention Improved In A Pompe Disease Clinical Trial

Pompe disease (Glycogen Storage Disease type II) is an autosomal recessive liposomal storage disorder caused by pathogenic variations in the acid alpha-glucosidase (GAA) gene. Specifically, the disease causes a shortage in GAA, which affects glycogen processing and can lead to an accumulation of glycogen in most tissues, but primarily in skeletal muscle, smooth muscle, and cardiac muscle, where it causes damage to tissue structure and function. Roughly 500 different GAA gene variations have been identified in families with this disorder.

Based on that variety, researchers have described three types of Pompe disease which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

Explore the ways one double-blind, randomized Phase 3 study focused on the late-onset stage of Pompe Disease was able to boost the participant’s overall adherence to the protocol and increase their willingness to continue with the trial.