Approved Treatments

Enzyme replacement therapy deals with the underlying cause of Fabry disease — mutations of the GLA gene — by generating the enzyme that is non-functional or missing in a disease. Because the infused enzyme usually lasts only a few hours in circulation patients require lifelong administration of the therapy.

Chaperones are small molecules that assist proteins in becoming functional by helping them take the correct shape and stay stable. With chaperone therapy, some faulty forms of the alpha-galactosidase A enzyme can be corrected and delivered to the lysosomes where they can adequately exert their function.

Accumulation of the fat molecule globotriaosylceramide causes several characteristic symptoms of Fabry disease, including kidney disease. If not treated, kidney disease can cause potentially life-threatening kidney failure. Dialysis can help supplement kidney function; in severe cases, a kidney transplant may be necessary.