FDA approves Pompe disease treatment

SILVER SPRING, Md. The Food and Drug Administration has approved a new treatment for a rare genetic disorder that causes muscle weakness, the agency said Tuesday.

The FDA approved Cambridge, Mass.-based Genzyme’s Lumizyme (alglucosidase alfa) for patients aged 8 and older with late-onset Pompe disease, which occurs in 1-in-40,000 to 300,000 births. Pompe disease causes heart and skeletal muscle weakness, leading to respiratory weakness and death from respiratory failure.

The disease results from the body’s genetic inability to make the enzyme alpha-glucosidase, also known as GAA, which is required for proper muscle functioning. The enzyme is needed to convert the sugar glycogen into energy; without the enzyme, glycogen builds up in the muscle cells, leading to weakness.

The drug is believed to work by replacing deficient GAA and reducing accumulated glycogen in the cells. Currently, the only other treatment available for Pompe disease is Myozyme (alglucosidase alfa), also made by Genzyme. Myozyme has lately been in short supply due to limited manufacturing capacity at Genzyme’s plants in Framingham and Allston Landing, Mass.

“Pompe disease is a devastating condition without the appropriate treatment,” said Julie Beitz, FDA Center for Drug Evaluation and Research Office of Drug Evaluation III director. “The approval of Lumizyme will provide an important treatment for patients diagnosed later in life with Pompe disease.”

The drug is being approved with a risk evaluation and mitigation strategy, or REMS, and will only be available through a restricted distribution system to ensure its use by the correct patient group. The drug will carry a boxed warning to alert patients and physicians to the risk of severe allergic and immune system reactions.

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