FDA Approves Olipudase Alfa to Treat Acid Sphingomyelinase Deficiency


The FDA approval makes olipudase alfa the first approved drug to target the physiological symptoms of the disease.

The FDA approved olipudase alfa (Xenpozyme, Genzyme) to treat the rare genetic disease acid sphingomyelinase deficiency (ASMD), which causes premature death in adult and pediatric patients.

“ASMD has a debilitating effect on people’s lives and there is a critical need to increase treatment options for patients who suffer from this rare disease,” said Christine Nguyen, MD, deputy director of the Office of Rare Diseases, Pediatrics, Urologic, and Reproductive Medicine in the FDA’s Center for Drug Evaluation and Research, in a press release.

Because they lack the right enzyme, patients with ASMD cannot break down sphingomyelin, which is a complex lipid that accumulates in the liver, spleen, lung, and brain. As a result, their abdomen becomes dangerously enlarged. This creates cascading physiological symptoms like pain, vomiting, falls, trouble eating, and abnormal liver and blood tests.

Many patients with ASMD contract the disease in their infancy. In severe cases, the child dies by the age of 3 years from neurological symptoms. In adult patients with ASMD, respiratory failure can also result in a greater risk of mortality. The FDA approval of the drug also makes it the first approved to treat symptoms of ASMD that are unrelated to the central nervous system.

In a randomized, double-blind, and placebo-controlled trial, 31 patients with ASMD took either olipudase alfa or a placebo. Based on the results of the study, investigators observed that olipudase alfa improved lung function, reduced liver size, and reduced spleen size.

The FDA had granted olipudase alfa priority review designation, and then also pushed the potentially life-saving drug to fast-track review and breakthrough therapy designation; it was also later granted orphan drug designation due to its treatment of a rare disease. Further, the FDA also awarded the company responsible for olipudase alfa, Genzyme, with a rare pediatric priority review voucher. This voucher encourages organizations to develop new drugs and biologics that target treatment and therapies for rare diseases in children.

The most common adverse effects (AEs) observed in patients given olipudase alfa were headache, cough, fever, joint pain, diarrhea, and low blood pressure. Box warnings also caution that patients could develop anaphylaxis, which is a hypersensitivity reaction, or abnormal liver blood tests. Additionally, intravenous infusion of olipudase alfa caused 75% of pediatric patients to experience symptoms of headaches, nausea, and vomiting; however, only 50% of adult patients experienced these AEs.

“The challenges involved with developing treatments for rare diseases are significant and unique,” Nguyen said in the press release. “We believe patients who suffer from ASMD, their families, and their physicians will welcome this long-awaited advancement.”


U.S. FDA. FDA Approves First Treatment for Acid Sphingomyelinase Deficiency, a Rare Genetic Disease. August 31, 2022. Accessed on August 31, 2022.

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