Treatment for Fabry Disease
Fabry disease is a chronic, progressive, multisystem disease. There are currently 2 approved treatments approaches in use in certain countries: Small molecule chaperone therapy and enzyme replacement therapy (ERT). Small molecule chaperone therapy is currently available in the European Union and Switzerland. ERT is currently available in countries globally.
Small Molecule Chaperone Therapy
Small molecule chaperones are designed to bind to active sites of certain mutant forms of the α-Gal A enzyme, to stabilize them, and help restore the function of the natural enzyme.1,2 This binding and stabilization helps to restore the native conformation of α-Gal A and facilitate its proper trafficking to lysosomes, which helps to restore enzymatic activity of the mutant protein and reduce the accumulation of glycolipids in organ cells. Small molecule chaperone therapy is continued over the course of a patient’s remaining lifetime.1,2
Enzyme Replacement Therapy
Enzyme replacement therapy is a type of infusion treatment that is designed to replace natural endogenous enzymes.1 For treating Fabry disease, ERT replaces the missing or deficient alpha-galactosidase A (α-Gal A) enzyme to reduce the accumulation of glycolipids in organ cells.3 ERT is injected slowly into the bloodstream through a vein usually in the arm or hand. ERT is typically administered every other week and continues over the course of a patient’s remaining lifetime.
Research and Development
Substrate reduction therapy (SRT) is a type of therapy currently being studied in clinical research trials. The aim of SRT is to decrease biosynthesis levels of accumulating GL-3, lyso-Gb3, and other disease substrates in lysosomal storage disorders.4
Gene therapy, using various gene delivery systems, is in early-stage research for several diseases, including Fabry disease. Fabry is considered to be a suitable disease for gene therapy because target cells are readily accessible and the level of enzyme correction necessary to ameliorate disease may be relatively low.5