Lysosomal Alpha Glucosidase; Recombinant Enzyme Used For the Treatment of Pompe Disease

Lysosomal alpha glucosidase is an enzyme used to treat Pompe disease (lysosomal storage disorder). It is a genetic disorder in which complex sugar called glycogen builds up in the body's cells. Pompe disease is characterized by absence or deficiency of an enzyme called acid alfa glucosidase, which breaks downs complex sugars in the body. It mostly affects the liver, heart, and muscles. Although it can happen to anyone, it's more common in African-American people and some Asian groups.

Although there is no cure, Pompe disease can be benefited from the introduction of enzyme replacement therapy (ERT), approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase. In August 2021, The U.S. Food and Drug Administration (FDA) approved Nexviazyme (avalglucosidase alfa-ngpt) for the treatment of patients one year of age and older with late-onset Pompe disease. Nexviazyme has demonstrated improvements for people living with late-onset Pompe disease.

Sanofi also filed avalglucosidase alfa in Japan in January 2021. ERT is the only effective form of treatment for Pompe disease. It consists of injecting lysosomal alpha glucosidase directly into the bloodstream. As a result, the body breaks down glycogen stores and prevents toxic buildups in the cells. Glucosidase enzymes catalyze hydrolysis of starch to simple sugars. In humans, these enzymes aid in the digestion of dietary carbohydrates and starches to produce glucose for intestinal absorption, leading to an increase in blood sugar levels.

Alpha glucosidase block the breakdown of starchy foods, such as pasta, potatoes, and bread, and they slow down the absorption of some sugars, such as table sugar. The inhibition of alpha-glucosidase and alpha-amylase can significantly reduce the post-prandial increase of the blood glucose and help manage blood glucose levels in type 2 diabetic and borderline patients. Acid alpha-glucosidase (GAA, also known as acid maltase) deficiency (Pompe disease) was the first identified lysosomal storage disease. It is also classified as glycogen storage disease type II.