Living with Pompe Disease
Programs & Pipeline ❯ Pompe Disease
About Pompe Disease
Pompe disease is a progressive, debilitating and life-threatening rare Lysosomal Disorder that results from a deficiency in an enzyme, GAA. Signs and symptoms of Pompe disease can be severe and debilitating and include progressive muscle weakness throughout the body, particularly the heart and skeletal muscles. This leads to accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease.