Transkaryotic Therapies, Inc. (TKT), a U.S. biopharmaceutical company dedicated to the research, development, reported that the Therapeutic Goods Administration (TGA) has granted marketing authorization of Replagal (agalsidase alfa) enzyme replacement therapy for the long-term treatment of Fabry disease in Australia.

Replagal enzyme replacement therapy is a human alpha-galactosidase A produced by a genetically engineered human cell line, and regulatory agencies responsible for 21 other countries have concluded that 0.2 mg/kg administered every other week is safe and effective. The benefits, as described in the product label, include the reduction of neuropathic pain, initial stabilization followed by improvement of renal function, and a reduction of cardiac mass with long-term use.

The most frequent adverse events observed during Replagal treatment were infusion reactions, which occurred in approximately 10% of patients. Replagal is administered over a 40-minute infusion. In certain countries, many patients receive Replagal in the home.

Fabry disease is an inherited rare genetic disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A affecting approximately 5,000 males and females worldwide. In patients with Fabry disease, globotriaosylceramide (Gb3) accumulates in various organs and tissues of the body due to the deficiency of alpha-galactosidase A. Many cells are damaged by Gb3 including epithelial cells of the kidney, myocardial cells, cells of the autonomic nervous system, and endothelial, perithelial, and smooth muscle cells in the large vessels. As a result, the deposits of this material can result in extreme pain, severe kidney damage, cardiovascular disease, and stroke. Due to its rarity and vast array of symptoms, diagnosis is often difficult and affected individuals have a significantly reduced quality of life and a greatly shortened life expectancy.

"We are pleased with the Australian authorities' decision to grant marketing approval of Replagal and the opportunity to make our treatment available to patients suffering from the effects of Fabry disease," said Richard F Selden, M.D., Ph.D., president and chief executive officer of TKT. "Replagal is the first treatment option available in Australia that has demonstrated clinically significant improvements in multiple manifestations of Fabry disease, including improvement in kidney function, a reduction in a number of pain measures, and cardiac improvement."