How Lumizyme works
Pompe disease is an inherited condition caused by a genetic defect that leads to the nonfunctioning enzyme called acid alpha-glucosidase (GAA). The lack of this enzyme results in the accumulation of glycogen, primarily in muscle tissues.
Glycogen is a complex sugar molecule. The GAA enzyme is normally responsible for breaking down glycogen, but this process doesn’t work correctly in Pompe disease patients. Excess glycogen disrupts cellular functions and causes cell death. This leads to muscle weakness, loss of respiratory function, and heart failure.
Lumizyme is a medication that replaces GAA. It is a genetically engineered enzyme, which is intended to act like natural GAA. A regular supply of the replacement enzyme is able to clear excess glycogen from the 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
Lumizyme-based enzyme replacement therapy was approved by the FDA in 2010 to treat late-onset Pompe disease. Multiple trials preceding the FDA decision demonstrated the safety and effectiveness of Lumizyme.
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.
In 2014, Lumizyme was approved 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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