PCM Trials Improves Retention in a Pompe Disease Clinical Trial

Background

Pompe disease (also called Glycogen Storage Disease type II) is an autosomal recessive liposomal storage disorder caused by pathogenic variations in the acid alpha-glucosidase (GAA) gene. The GAA gene contains the information for production and function of the protein GAA. The genetic variation(s) in the GAA gene cause a shortage in GAA (an enzyme) affecting glycogen processing.

Glycogen, a complex sugar, cannot be degraded to a simple sugar like glucose. This causes glycogen to accumulate in most tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function. Close to 500 different GAA gene variations have been identified in families with this disorder.

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. This study focused on late-onset Pompe disease, a less severe form, with onset in late childhood, adolescence or adulthood. Late onset manifestations typically include difficulties in ambulation and reduced respiratory function.