How is Fabry disease treated
What treatment is available for Fabry disease?
Enzyme replacement therapy (ERT) has been shown to be safe and effective treatment for Fabry disease. Two preparations are available: agalsidase-alfa (Replagal; Shire Pharmaceuticals, Lexington, MA) and agalsidase-beta (Fabrazyme; Genzyme Corp., Cambridge, MA). Only agalsidase-beta is US Food and Drug Administration approved and commercially available in the United States. Agalsidase-beta delivered intravenously at 1 mg/kg every 2 weeks has been shown in randomized, double-blind, placebo-controlled, clinical trials to clear the accumulated glycolipids from interstitial capillary endothelial cells of the kidney and to stabilize the estimated glomerular filtration rate. ERT with agalsidase-beta also cleared the GL-3 from the vascular endothelial cells in the heart and skin. A phase IV randomized, double-blind, placebo-controlled study in advanced patients with Fabry disease with mild to moderate kidney insufficiency demonstrated that agalsidase-beta slowed the progression of kidney dysfunction. Subsequent studies have shown that the addition of angiotensin-converting enzyme inhibitors or angiotensin II receptor blockade augments the kidney protective effects of enzyme replacement. Studies have compared the effect of dose in patients with Type 1 Classic disease.
