Pompe Disease NFZ — 23 facilities in 21 cities

Pompe disease is a rare lysosomal storage disorder resulting from acid alpha-glucosidase deficiency, causing glycogen accumulation in muscles. It manifests as progressive muscle weakness, respiratory difficulties, and in infants, cardiomyopathy. NFZ covers enzymatic and genetic diagnostics, as well as enzyme replacement therapy (alglucosidase alfa) through a drug program.