Idursulfase for the treatment of mucopolysaccharidosis II.

Human recombinant proteins are being used to treat an increasing number of disorders. Advances in the large scale production of recombinant proteins and the understanding of glycosylation and its importance for protein targeting and function have led to the development of recombinant enzyme-replacement regimens for a number of human lysosomal storage diseases. The latest addition to this group is mucopolysaccharidosis II or Hunter syndrome. Purified human recombinant idursulfase has been shown to alter disease manifestations in individuals with Hunter syndrome. The recent approval in the US, Europe, Canada and Japan of idursulfase for the treatment of Hunter syndrome introduces the first pharmacologic agent and indeed the first specific treatment directed towards this devastating genetic disease.