Lumizyme (alglucosidase alfa) is an enzyme replacement treatment for Pompe disease that was developed by Sanofi Genzyme and approved by the U.S. Food and Drug Administration (FDA). The European Union has also approved the therapy under the brand name Myozyme.

How does Lumizyme work?

Pompe disease is an inherited condition caused by a genetic defect that leads to the malfunctioning of the enzyme acid alpha-glucosidase (GAA), which normally breaks down glycogen. This results in the accumulation of glycogen, primarily in muscle tissues. Excess glycogen disrupts cellular functions and causes cell death, leading to muscle weakness, loss of respiratory function, and heart failure.

Lumizyme is a medication that replaces GAA. Researchers genetically engineered it to act like natural GAA. A regular supply of the replacement enzyme is able to clear excess glycogen from muscle tissues and, as a result, reduce the severity of symptoms experienced by patients.

Treatment with Lumizyme is not a cure for Pompe disease. Even though the medication provides a long-term replacement for the missing enzyme, it cannot correct the underlying genetic defect that causes enzyme deficiency.

Lumizyme in clinical trials

The FDA first approved Lumizyme-based enzyme replacement therapy in 2010 to treat late-onset Pompe disease. Multiple trials preceding the FDA’s decision demonstrated the safety and effectiveness of the treatment.

A Phase 4 trial (NCT01288027) in 16 patients with late-onset Pompe disease treated with Lumizyme demonstrated reduced levels of glycogen in muscle biopsies following treatment. These findings confirmed the disease-stabilizing effect of Lumizyme.

The FDA approved the use of Lumizyme in 2014 for the treatment of Pompe disease patients of all ages and disease types. This approval was based on the positive results of a series of trials, including a Phase 2/3 trial (NCT00059280) that investigated the safety and efficacy of the treatment in patients with infantile-onset Pompe disease.

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