What is Lumizyme (Alglucosidase alfa)?

From the Guidelines

Lumizyme (alglucosidase alfa) is a recombinant human acid alpha-glucosidase (rhGAA) enzyme replacement therapy specifically approved for treating Pompe disease, a rare genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). This medication works by providing patients with a manufactured version of the missing enzyme, which helps break down glycogen in the body's cells 1. Lumizyme is administered as an intravenous infusion, typically at a dose of 20 mg/kg body weight once every two weeks. Treatment is lifelong as it manages but doesn't cure the condition.

Key Points

• Common side effects include infusion reactions such as fever, chills, headache, and skin reactions.
• Patients should be monitored during infusions, especially during the first few treatments, as severe allergic reactions can occur.
• Lumizyme has shown effectiveness in improving muscle function and respiratory capacity in patients with Pompe disease, helping to prevent the progressive muscle weakness that characterizes the condition 1.
• The medication works by being taken up by cells and transported to lysosomes where it replaces the function of the deficient GAA enzyme, reducing glycogen accumulation that would otherwise damage muscle tissue.
• The individual response to ERT may vary due to development of rhGAA specific antibodies, age of presentation, rate of progression of disease, muscle fiber type, defective autophagy, and underlying genotype 1.

Administration and Monitoring

• Lumizyme should be administered under the supervision of a healthcare professional.
• Patients should be closely monitored for signs of infusion reactions and other adverse effects.
• The development of rhGAA antibodies may be more frequent in patients with absent GAA protein (CRIM-negative) and have an impact on the prognosis of patients with infantile-onset PD 1.

From the FDA Drug Label

1 INDICATIONS AND USAGE LUMIZYME® is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (acid α-glucosidase [GAA] deficiency).

11 DESCRIPTION Alglucosidase alfa is a hydrolytic lysosomal glycogen-specific enzyme encoded by the predominant of nine observed haplotypes of the human acid α-glucosidase (GAA) gene.

Alglucosidase alfa degrades glycogen by catalyzing the hydrolysis of α-1,4- and α-1,6- glycosidic linkages of lysosomal glycogen.

Lumizyme (Alglucosidase alfa) is a hydrolytic lysosomal glycogen-specific enzyme used to treat Pompe disease (acid α-glucosidase [GAA] deficiency). It works by degrading glycogen and is produced by recombinant DNA technology in a Chinese hamster ovary cell line 2.

From the Research

Definition and Use of Lumizyme (Alglucosidase alfa)

• Lumizyme, also known as Alglucosidase alfa, is an enzyme replacement therapy used to treat Pompe disease, a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA) 3.
• It is used to replace the deficient enzyme in patients with Pompe disease, helping to break down glycogen in the body and improve muscle function 4, 5.
• Alglucosidase alfa is administered intravenously every other week, typically at a dose of 20 mg/kg 6, 4.

Mechanism of Action and Benefits

• Alglucosidase alfa works by replacing the deficient GAA enzyme, allowing for the breakdown of glycogen in the lysosomes of cells 3.
• The use of Alglucosidase alfa has been shown to improve muscle function, stabilize disease progression, and enhance quality of life in patients with Pompe disease 7, 4, 5.
• Studies have demonstrated significant improvements in various clinical outcomes, including the 6-minute walk test, muscle strength, and respiratory function 7, 6, 4.

Safety and Tolerability

• Alglucosidase alfa has been generally well-tolerated in clinical trials, with common adverse events including infusion-associated reactions, headache, and fatigue 7, 6.
• Serious adverse events have been rare, and the majority of patients have been able to continue treatment without significant issues 7, 6.