How does Fabrazyme enzyme replacement therapy work?

Fabrazyme is an enzyme replacement therapy that works by replacing the enzyme missing in people with Fabry disease, called alpha-galactosidase A (or alpha-GAL). Fabrazyme is a man-made form of alpha-GAL, called agalsidase beta, that works exactly the same as naturally occurring alpha-GAL, to break down and clear a fatty substance called globotriaosylceramide (GL-3) that accumulates in the body of people with Fabry disease. It is given by intravenous infusion every two weeks.

Fabry disease is an inherited condition (runs in families) that is caused by a mutation or defect in a gene called the GLA gene (also called the Fabry gene) located on the X chromosome. A person with Fabry’s disease is unable to make enough of an enzyme called alpha-galactosidase A (or alpha-GAL) that is responsible for breaking down and clearing a fatty substance called globotriaosylceramide or GL-3. As a result, Gl-3 accumulates in various tissues in the body such as the kidneys, heart, and skin, and can cause symptoms such as ministrokes, marble-like patterning in the eyes, hearing loss, heart disease, digestive problems, skin changes, an inability to sweat, or temperature sensitivity. Left untreated, Fabry disease can reduce life expectancy by 15 years in women and 20 years in men.

Fabrazyme may be used to treat Fabry disease in adults and children aged 2 years and older, regardless of how severe their disease is, the activity of their enzymes, or their type of genetic variation. It is a recombinant human α-galactosidase A enzyme with the same amino acid sequence as the native enzyme and has been used to treat more than 5000 patients worldwide.