Galsulfase: enzyme therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

Abstract

Galsulfase is a recombinant formulation of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase, which is deficient in patients with mucopolysaccharidosis type VI (MPS-VI; also known as Maroteaux–Lamy syndrome). Regular intravenous infusion of galsulfase has been shown to facilitate the clearance of dermatan sulfate, the major storage material found in the tissues of patients with MPS-VI. Associated improvements in endurance, joint range of motion and pulmonary function were observed; with variability in response, partly influenced by disease severity prior to the initiation of treatment. Treatments were well-tolerated, and although antibodies against the infused enzyme developed in the majority of treated patients, there has been no lasting adverse influence on outcome. These developments have resulted in the use of galsulfase therapy as the primary treatment for patients with MPS-VI; obviating the need for bone marrow transplantation. Other therapeutic approaches, such as substrate reduction therapy a...