The US FDA has approved of Shire PLC’s Elaprase, the first ever treatment for Hunter syndrome, also known as Mucopolysaccharidosis II (MPS II), a hereditary and potentially fatal disorder in children. Individuals afflicted with this disorder lack an enzyme called iduronate-2-sulfatase (I2S), and are unable to break down and recycle mucopolysaccharides, also known as glycosaminoglycans (GAG). When GAG accumulates in the body, symptoms of the disorder are manifested, which includes characteristic facial appearance, abnormal function of multiple organs, and in severe cases, early death.
Elaprase is a purified form of I2S manufactured by recombinant DNA technology in a human cell line. It is given as weekly infusions, a therapy that is expected to be one of the world’s most expensive medical treatments, at about $300,000 per patient per year.