Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease.

ABSTRACT: Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment. Since 2006, enzyme replacement therapy (ERT) with Alglucosidase alfa (Myozyme) has been available, which is a recombinant human GAA (rhGAA). Myozyme therapy has prolonged the life span of affected patients, but many patients showed a continuing, albeit slower, disease progression. A new generation of rhGAA, Cipaglucosidase alfa (Amicus) has a higher content of mannose-6-phosphate residues, which are necessary for efficient cellular uptake and lysosomal targeting. Cipaglucosidase alfa is co-administered with an enzyme stabilizer, Miglustat, which

SUBMITTER: Fiege L 

PROVIDER: S-EPMC10537092 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature