What is enzyme replacement therapy for Fabry disease?
In patients with Fabry disease, deficient enzymatic activity of alpha-galactosidase A (α-Gal A) leads to an accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) within almost all cell types and various organs.1-3 Enzyme replacement therapy introduces recombinant enzyme α-Gal A into lysosomes to help address the underlying enzyme deficiency and restore breakdown of accumulated Gb3 in patients with Fabry disease, in addition to the associated multisystemic disease manifestations (Figure 1).4 Two intravenous enzyme replacement therapies are available for patients with Fabry disease: agalsidase alfa and agalsidase beta.5,6 The availability of treatments differs between countries. For further information, please consult your local prescribing information.
Enzyme replacement therapy restores the breakdown of Gb3 in patients with Fabry disease.4
C-ANPROM/INT/FAB/0017; Date of preparation: March 2021
- Felis A, Whitlow M, Kraus A, et al. Current and investigational therapeutics for Fabry disease. Kidney Int Rep 2019; 5: 407-413.
- Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int 2017; 91: 284-293.
- Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-1167.
- El Dib R, Gomaa H, Carvalho RP, et al. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 2016; 7: CD006663.
- Shire Pharmaceuticals Ltd. Replagal® EU Summary of Product Characteristics. Last updated November 2020.
- Sanofi Genzyme. Fabrazyme® EU Summary of Product Characteristics. Last updated November 2020.