Unknown Manufacturer • In Europe, cipaglucosidase alfa is a long-term enzyme replacement therapy used in combination with the enzyme stabilizer miglustat for the treatment of adults with late-onset Pompe disease, also known as acid α-glucosidase (GAA) deficiency.
Cipaglucosidase alfa is a recombinant human acid alpha-glucosidase used to treat late-onset Pompe disease in adults.
Pompe disease, also known as glycogen storage disease type II (GSD II), is a rare inherited disorder caused by alpha-glucosidase (GAA) gene mutations. In normal conditions, GAA hydrolyzes glycogen and releases free glucose units in lysosomes. However, patients with Pompe disease have a GAA deficiency, and glycogen accumulates within lysosomes, impairing the function of smooth, cardiac, and skeletal muscle cells and causing tissue damage. Cipaglucosidase alfa is a recombinant form of GAA conjugated with mannose-6-phosphate (M6P) N-glycans. Attributing to M6P, cipaglucosidase alfa has a high affinity for the cation-independent mannose-6-phosphate receptor (CI-MPR), a receptor responsible for the transport of GAA to lysosomes. Upon binding to CI-MPR, cipaglucosidase alfa is internalized by the lysosomes and undergoes proteolytic cleavage and N-glycan trimming to form the mature and active form of the GAA enzyme to cleave glycogen. Cipaglucosidase alfa is coadministered with miglustat, which stabilizes the conformation of the enzyme.
