Firms vie to treat genetic disease
By John Travis
From Philadelphia, at the annual meeting of the American Society of Human Genetics
Genzyme stands at the center of another enzyme-replacement story. The rare, fatal genetic condition in this instance is Fabry’s disease. In people with the illness, lack of the enzyme alpha-galactosidase A results in an abnormal buildup of certain lipids in blood vessel cells.
This causes episodes of severe pain and progressively damages the kidneys and heart. Genzyme scientists and collaborators from Mt. Sinai Medical Center in New York City infused the missing enzyme into 29 adults with Fabry’s disease. The treatment completely cleared the dangerous lipid in the hearts, kidneys, and skin of 20 patients. In all but one of the others, the treatment significantly slashed the lipid accumulation. Seeking approval for this therapy, Genzyme has submitted its data to the Food and Drug Administration.