Acid Sphingomyelinase Deficiency Receives First FDA Approved Therapy

The rare genetic disease, acid sphingomyelinase deficiency (ASMD), was just granted its first approved treatment by the US Food and Drug Administration (FDA). Olipudase alfa (Xenpozyme) was developed by Sanofi to treat symptoms unrelated to the central nervous system in pediatric and adult patients with the life-threatening condition.

Caused by the inability to break down the complex liquid sphingomyelin due to an insufficient amount of the necessary enzyme, ASMD affects the liver, spleen, lung and brain, which can make it life-threatening. These patients experience painful symptoms, and even those that survive into adulthood can face respiratory failure that lead to premature death.

“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,” Christine Nguyen, MD, Deputy Director, Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine, FDA Center for Drug Evaluation and Research, said in a statement.

Leading up to this decision, the FDA granted olipudase alfa orphan drug designation, as well as fast track, breakthrough therapy, and priority review designations. Additionally, the agency aimed to encourage further development of new drugs and biologic therapies that target rare diseases in children by awarding Sanofi a rare pediatric disease priority review voucher.

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