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New treatment approved for children with late-onset Pompe’s disease

The FDA has approved alglucosidase alfa for children aged 8 years and older who have late-onset Pompe’s disease, a rare genetic disorder that causes heart and skeletal muscle weakness, according to an FDA press release.

The disease occurs in an estimated one in every 40,000 to 300,000 births and eventually progresses to respiratory weakness and death due to respiratory failure.

Alglucosidase alfa (Lumizyme, Genzyme) works by replacing acid alpha-glucosidase, an enzyme necessary to help the heart and muscle cells to convert glycogen into energy that patients with Pompe’s disease lack. Without this enzyme action, researchers believe glycogen builds up in the cells and weakens the heart and muscles.

Alglucosidase alfa has received approval with the FDA’s risk evaluation and mitigation strategy and will only be available through an alglucosidase alfa control and education program (Lumizyme ACE), a distribution system that will ensure that the medication reaches the correct patient group.

The only other Pompe’s disease treatment currently approved in the United States is Myozyme (Genzyme), which has been in short supply due to limited manufacturing capacity, according to the press release, and has been reserved for younger patients with more aggressive forms of the disease.

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

Alglucosidase alfa will carry a Boxed Warning due to risk for anaphylaxis, severe allergic reactions and immune-mediated reactions, according to the press release. The most commonly reported adverse effects were infusion-related reactions, hives, diarrhea, vomiting, shortness of breath, itchy skin, rash, neck pain, partial hearing loss, flushing, pain in extremities and chest discomfort.

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