Fabry disease is an X-linked recessive metabolic disorder of humans caused by mutations in the gene for ceramidetrihexosidase (alpha galactosidase A) that results in the accumulation of ceramidetrihexoside in various organs and tissues throughout the body. Patients suffer from acropharesthesias, premature myocardial infarctions and strokes, and kidney impairment. We have carried out a Phase 1 Safety and Dose Escalation trial of enzyme replacement in ten hemizygous male patients with Fabry disease using recombinantly produced human alpha galactosidase A. The enzyme was well tolerated, and no patient had an untoward reaction. The quantities of ceramidetrihexoside in the liver, blood, and urine were reduced. On the basis of these safe and salutary responses, we shall initiate a Phase 2 clinical efficacy trial of enzyme replacement therapy in patients with Fabry disease.
