50 years ago, enzyme injections showed promise for treating a rare disease

First successful enzyme therapy in humans — Science News, April 28, 1973

Fabry’s disease … [is caused by] a faulty fat-metabolizing enzyme called alpha-galactosidase. Because the abnormal enzyme does not break down lipids in the blood as it should, they accumulate in the body. [Researchers] tried to purify the enzyme in its normal form from human placental tissue. Four months ago they got enough of the enzyme to inject into two patients…. The results look promising.

Update

Though the trial showed that enzyme replacement therapy could work, it took decades before such treatments were cleared for use by the U.S. Food and Drug Administration. In 1991, an injection to treat a different rare inherited disorder called Gaucher disease became the first to gain approval (SN: 11/23/74; SN: 5/25/91). Approval for an enzyme replacement therapy for Fabry’s disease followed in 2003. Scientists are still developing enzyme therapies. Last year, researchers reported treating a developing fetus for Pompe disease, which causes severe heart and muscle defects (SN: 11/9/22).