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 and gene therapy, are currently under investigation. Meanwhile, it remains important to underscore the need for close patient monitoring and the introduction of palliative measures, as indicated, to ensure an optimal outcome.
Financial & competing interests disclosure
Gregory M Pastores is the recipient of research grants from Actelion, Amicus, Biomarin, Genzyme, Protalix and Shire HGT; companies engaged in drug development for lysosomal storage disorders. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.