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Treatment for Pompe disease

Genzyme Submits BLA for Myozyme for Treatment of Pompe Disease

Pivotal Trial Meets Primary Endpoint

CAMBRIDGE, Mass., July 29, 2005 -- Genzyme Corp. announced today that it has submitted a biologics license application (BLA) to the U.S. Food and Drug Administration for Myozyme (alglucosidase alfa). If approved, Myozyme would be the first treatment developed for patients with Pompe disease, a debilitating and often fatal muscle disorder resulting from an inherited enzyme deficiency. The Myozyme BLA is expected to receive Priority Review by the FDA, which means the agency would be required to act on the application within six months.

The BLA contains data from several clinical trials, including the pivotal study AGLU01602, which Genzyme reported today met its primary endpoint. This trial enrolled 18 patients with infantile-onset Pompe disease who began receiving Myozyme by six months of age. Outcomes for these patients were compared with a historical cohort, rather than a placebo cohort, because of the rapidly progressive and fatal nature of infantile-onset Pompe disease.

All patients treated with Myozyme were alive at 18 months of age, compared with two percent of patients who were alive at this age in the historical cohort. The primary endpoint for the study was the proportion of patients treated with Myozyme who were both alive and free of invasive ventilator support at 18 months of age, compared with the proportion of patients in the historical cohort who were alive at 18 months of age. Eighty-three percent of patients treated with Myozyme (15 of 18) were both alive and free of invasive ventilator support at this age, compared with two percent of patients in the control group who were alive.

"This is a very exciting and hopeful moment for Pompe patients and their families," said Henri A. Termeer, chairman and chief executive officer of Genzyme. "Myozyme could be available in the United States and Europe by the early part of next year and in other parts of the world relatively soon afterward."

Genzyme will submit results from study AGLU01602 to the European Medicines Agency, which is reviewing a marketing authorization application for Myozyme filed in December 2004. The company anticipates submitting a marketing application for Myozyme in Japan later this year.

Genzyme is seeking approval for Myozyme's use as a long-term enzyme replacement therapy for all patients with a confirmed diagnosis of Pompe disease, defined as a deficiency of the enzyme acid alpha-glucosidase. There is currently no approved treatment for the disease. Myozyme has received orphan drug designation in the United States, which would convey a seven-year period of market exclusivity if the product is approved. Orphan drug designations have also been granted in the European Union and Japan.

More than 130 patients are now receiving Myozyme in clinical studies, through Genzyme's expanded access program, or through pre-approval mechanisms sponsored by governments in several European countries. Genzyme expects to initiate a clinical trial shortly for patients with late-onset Pompe disease. The company recently concluded an observational study involving late-onset patients, which was designed to evaluate appropriate endpoints for a treatment study. The Myozyme program is Genzyme's largest research and development initiative.

About Pompe disease

Pompe disease is an inherited, progressive muscle disease that affects fewer than 10,000 people worldwide. The disease is caused by a deficiency of an enzyme known as acid alpha-glucosidase. This deficiency leads to the excessive accumulation of glycogen in the body, particularly in the muscles. Pompe disease manifests as a broad spectrum of clinical symptoms with varying rates of disease progression. Infantile-onset patients present in the first months of life with an enlarged heart and skeletal and respiratory muscle weakness, and most die from cardiac or respiratory complications by one year of age. Late-onset patients may present with muscle or respiratory weakness anytime during childhood or adulthood, and disease progression is less rapid. Late-onset patients often require mechanical ventilation for breathing assistance and mobility aids such as canes, walkers or wheelchairs. Late- onset patients will experience a shortened lifespan due to progressive respiratory failure. Pompe disease belongs to a family of more than 40 rare inherited diseases known as lysosomal storage disorders.

Source: Genzyme Corp.

Posted: July 2005

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