New Treatment is FDA Approved for Late-Onset Pompe Disease

According to a story from Pharmacy Times, the US Food and Drug Administration (FDA) has recently approved a new treatment for late-onset Pompe disease. The drug, developed by the biopharmaceutical company Sanofi, is called avalglucosidase alfa (marketed as Nexviazyme). Late-onset disease is considered a disease in which symptoms appear at age one or older. The drug is classified as a form of enzyme replacement therapy (ERT) which acts upon the mannose-6-phosphate (M6P) receptor.

About Pompe Disease

Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of a certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late-onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary, and it primarily only halts disease progression. To learn more about Pompe disease, click here.

This rare disease is projected to affect around 3,500 people in the US. While the infantile-onset form is the most severe, the late-onset form can begin at any age, and diagnosis is often delayed. 

A Promising Treatment

This approval follows results from a phase 3 clinical trial in which treatment with avalglucosidase alfa was able to improve breathing ability and walking distance. At 49 weeks, patients that received that drug walked 32.2 meters further than placebo and they also walked 30 more meters than patients that were receiving alglucosidase alfa.

The therapy will be delivered via intravenous infusion every two weeks, with dose level being based on the weight of the patient. The approval of this new treatment is good news for the Pompe disease patient community, who now have a new option that can reduce their disease progression and improve movement and breathing ability.

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