Acid Sphingomyelinase Deficiency

FDA Approves Xenpozyme: The First Disease-specific Medication for Acid Sphingomyelinase Deficiency (ASMD)

  • September 8, 2022
  • 2 mins read

On August 31, 2022, the U.S. FDA approved Xenpozyme (Olipudase alfa) for intravenous infusion in pediatric and adult patients with a rare genetic disease called Acid Sphingomyelinase Deficiency (ASMD), that causes premature death.

The Xenpozyme (Olipudase alfa) is the first disease-specific medicine approved to treat signs and symptoms that are not associated with the central nervous system (CNS) in those with Acid Sphingomyelinase Deficiency. 

According to Christine Nguyen, M.D., deputy director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine in the FDA’s Center for Drug Evaluation and Research, “Acid Sphingomyelinase Deficiency has a debilitating effect on individual’s lives and there is an absolute need to enhance treatment options for those who suffer from this rare genetic disease.” 

“We think all those who suffer from Acid Sphingomyelinase Deficiency (a rare genetic disease), their loved one’s and their health specialists will embrace this long-awaited advancement,” Christine Nguyen added. 

What is ASMD: Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder, caused by the lack of an enzyme required to break down (metabolize) a complex lipid (fatty substance), named sphingomyelin, that accumulates in the lung, liver, spleen, and brain. 

Patients with this rare genetic disorder have enlarged abdomens that are responsible for feeding difficulties, pain, vomiting, and falls. The most seriously affected patients have profound neurologic signs/symptoms and hardly sustain more than 2-3 years of age. Other patients may sustain into adulthood but die prematurely because of respiratory failure. 

About Therapy: Xenpozyme (Olipudase alfa) is an enzyme replacement therapy that is designed to scale down the accumulation of sphingomyelin in the liver, spleen, and lung. The efficacy of the therapy for Acid Sphingomyelinase Deficiency was shown in a randomized, double-blind, placebo-controlled findings of 31 patients randomized to take Olipudase alfa (Xenpozyme) or placebo. As per findings, the FDA was able to conclude that Xenpozyme is effective. Overall, treatment with Xenpozyme (Olipudase alfa) improved lung function and reduced spleen and liver size.

Xenpozyme (Olipudase alfa) got fast track, breakthrough therapy, and priority review designations. It is also  designated as an orphan drug, which provides incentives to aid and encourage the development of medicines for rare diseases. 

Toxicity: The most commonly reported side effects with Xenpozyme are fever, headache, cough, diarrhea, joint pain, and low blood pressure. This medicine carries a boxed warning for serious hypersensitivity reactions including anaphylaxis.

Routine blood laboratory testing is required periodically. Therapy should not be initiated during pregnancy due to the probability for fetal harm, observed during animal studies.

Note: The agency granted the approval of Xenpozyme (Olipudase alfa) to Genzyme.