Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease

Michael Beck

Children’s Hospital, University of Mainz, Mainz, Germany

Abstract: Pompe disease is a lysosomal storage disorder characterized by muscle weakness and cardiomyopathy. It shows a broad variability regarding the clinical severity as well as the age of onset. In the past, two different recombinant enzyme preparations have been developed for the treatment of Pompe patients: α-glucosidase, produced in rabbit milk, and α-glucosidase, produced in Chinese hamster ovary (CHO) cell lines. The CHO enzyme received marketing approval in 2006 after it was proven to be effective in ameliorating muscle strength and improving heart function. The other has not been approved. The clinical efficacy of this enzyme preparation could be confirmed by several clinical trials in patients with different age of onset and disease severity. Enzyme replacement therapy, however, has its limitations due to unsatisfactory access of recombinant α-glucosidase to the muscle cells and due to the formation of antibodies. To overcome these therapeutic restraints, the development of a more effective enzyme preparation may become necessary.

Keywords: alglucosidase alfa, alpha glucosidase, Pompe disease, enzyme replacement therapy, glycogen storage disorder type II, acid maltase deficiency