FDA Approves First Treatment for Rare Genetic Disease

FDA approves Xenpozyme (olipudase alfa) to treat acid sphingomyelinase deficiency

(RxWiki News) The US Food and Drug Administration (FDA) has approved the first treatment for a rare genetic disease.

Before this approval, no medication was approved to treat acid sphingomyelinase deficiency (ASMD). But now, the FDA has approved a drug called Xenpozyme (olipudase alfa) to treat this serious condition.

ASMD can cause early death, which means there was a critical need for more ways to treat it, the FDA noted.

“The challenges involved with developing treatments for rare diseases are significant and unique," said Dr. Christine Nguyen, deputy director of the FDA's Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine, in a press release. "We believe patients who suffer from ASMD, their families and their physicians will welcome this long-awaited advancement.”

Patients with ASMD lack an enzyme that helps break down a lipid that accumulates in vital organs. Some patients with severe disease die in early childhood, while others can live to adulthood but often die of respiratory failure.

Xenpozyme replaces that missing enzyme to prevent the buildup that can cause the negative effects of ASMD, according to the FDA.

The safety and effectiveness of Xenpozyme was determined in a small, placebo-controlled trial. In that trial, patients who received the newly approved drug saw pronounced improvements in their condition.

Side effects of Xenpozyme included low blood pressure, diarrhea, joint pain, fever, cough and headache. This drug also comes with a boxed warning — the most serious type of drug warning from the FDA — noting the risk of severe reactions like anaphylaxis.

The FDA approved this medication for Genzyme.

Talk to your healthcare provider about the best available treatments for your condition.

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Review Date: 
September 10, 2022