Enzyme replacement therapy extends survival in Pompe disease

Type II glycogen storage disorder, also known as Pompe disease, is caused by a deficiency of the enzyme GAA. Myozyme (alglucosidase alfa), marketed by Genzyme, replaces the missing enzyme. Researchers at Duke University gave Myozyme to 18 children under the age of 6 months with rapidly worsening Pompe disease. All the children survived to at least 18 months of age, and 15 of them did not need a ventilator (children with Pompe disease usually do). Compared to children with Pompe disease who were not given the drug, these children had a greatly reduced risk of breathing problems and death. The study demonstrated that starting enzyme replacement treatment early in infancy shows great promise in treating the disease. The research was published in the December 6, 2006, online edition of Neurology.