Genzyme tests treatment for rare genetic disease

Patients with Pompe disease display a range of symptoms that correspond with the age of disease onset and the rate of disease progression. Progressive weakness in the muscles used for mobility, breathing and digestion are the most common symptoms. In infants, heart muscle is typically severely affected.

Because a treatment for Pompe disease is urgently needed, Genzyme has already submitted European and US marketing applications for Myozyme. Regulatory action on these applications is expected in early 2006. Genzyme anticipates submitting marketing applications for Myozyme in Japan and several other countries by the end of this year.

If approved, Myozyme will be the first treatment developed for patients with Pompe disease, a debilitating and often fatal neuromuscular disorder affecting fewer than 10,000 people worldwide.

The late-onset trial is a placebo-controlled study that will enroll at least 72 patients. It is being conducted at five sites in the US and two in Europe. Participants will be assigned to receive intravenous infusions of either Myozyme at a dose of 20 mg/kg or a placebo every other week for 52 weeks.

“Conducting this study is consistent with our commitment to confirm the safety and efficacy of Myozyme for patients across the spectrum of Pompe disease,” said Richard Moscicki, senior vice president and chief medical officer for Genzyme. “Our approach has been to pursue approval for Myozyme as soon as possible, given the tremendous medical need.”