Enzyme Replacement Therapy (ERT)

Until the availability of enzyme replacement therapy, there was not a specific treatment for Fabry disease. Doctors managed their patients' signs and symptoms with measures such as medications for pain or dialysis for kidney failure. Today, the most direct approach to reducing the built up substrate and the only disease specific therapy that is fully funded in Australia available to Fabry patients is Enzyme Replacement Therapy.  The goal of ERT is to restore enough enzyme which is deficient in patients with Fabry disease to break down the built up substrate and prevent further accumulation. ERT is not a cure for Fabry disease; that is, it does not correct the genetic defect.  But the treatment may improve signs and symptoms of Fabry Disease.

ERT has been approved for use in many countries throughout the world.  There are currently two treatments available in Australia for Fabry Disease. Patients in consultation with their doctor should consider all available information when choosing which enzyme therapy is most appropriate for their needs.

Agalsidase - beta (Fabrazyme®)



Fabrazyme (agalsidase beta, Genzyme) was developed by Robert Desnick, MD, PhD, and is indicated for the treatment of patients with Fabry disease.  Through clinical trials, Fabrazyme has been shown to reduce the build up of GL-3 in the capillary endothelium of the kidney and certain cell types.   It is given as an infusion administered every 2 weeks, which is typically initiated in a hospital.

Agalsidase - alfa (Replagal®)

Replagal (agalsidase alfa ghu) is a human α-galactosidase A protein produced by genetic engineering technology. Replagal has been approved for use for the treatment of Fabry Disease in over 44 countries including Australia. Replagal is an enzyme replacement therapy that helps breakdown Gb3 or GL-3 in many types of cells including blood vessels, kidney, heart and liver and also in the plasma. Replagal is given every two weeks by infusion over 40 minutes through a vein, usually in the arm, either in a hospital infusion centre or for some patients at home.