FDA Approves First Treatment for Acid Sphingomyelinase Deficiency

The FDA approved olipudase alfa (xenpozyme) for the treatment of the rare genetic disease acid sphingomyelinase deficiency (ASMD) in pediatric and adult patients. Olipudase alfa is the first medication approved to treat symptoms not related to the central nervous system in these patients.

Olipudase alfa is to be administered through intravenous infusion. The treatment received approval after a randomized, double-blind, placebo-controlled study demonstrated the efficacy of the enzyme replacement therapy. The study enrolled 31 patients who were randomly assigned to take olipudase alfa or a placebo. After the study’s completion, researchers determined that the treatment improved lung function and reduced liver and spleen size—organs that are affected by sphingomyelin accumulation that occurs in patients with this disease.

“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.

The FDA reported the most common adverse effects of olipudase alfa to include headache, cough, fever, joint pain, diarrhea, and low blood pressure. During the clinical trials, 75% of pediatric patients and 50% of adult patients experienced reactions including headaches, nausea, and vomiting. Additionally, the treatment carries a boxed warning for severe hypersensitivity reactions including anaphylaxis.

Laboratory test abnormalities were also reported, such as abnormal liver blood tests. Olipudase alfa should not be taken during pregnancy as it poses a risk for fetal harm, which was observed during animal studies.


—Jessica Ganga


FDA approves first treatment for acid sphingomyelinase deficiency, a rare genetic disease. News Release. US Food and Drug Administration; August 31, 2022. Accessed September 20, 2022.