The FDA has approved a new drug made by Sanofi SA to treat a rare, fatal genetic disorder. The August 31 announcement gave patients living with Acid Sphingomyelinase Deficiency (ASMD) their first treatment option: Xenpozyme (Olipudase alfa).

According to the FDA, ASMD is a debilitating condition that is caused by the lack of an enzyme required to break down the complex lipid, sphingomyelin. Sphingomyelin accumulates in the liver, spleen, lungs and brain, and can cause enlarged abdomens. Other symptoms of ASMD include:

  • Difficulty eating
  • Falling
  • Pain
  • Vomiting

Other signs of ASMD, which has been diagnosed in fewer than 120 patients in the U.S. according to Yahoo Finance, include abnormal blood and liver test results. Patients with large amounts of sphingomyelin buildup in neurological tissue have a life expectancy of only two or three years before the neurological symptoms cause respiratory failure and death.

Xenpozyme, an intravenous infusion manufactured by Genzyme, is the first medication that has been approved to treat any symptoms of ASMD that are not related to the central nervous system. Xenpozyme is an enzyme replacement therapy that reduces the accumulation of sphingomyelin in the liver, spleen or lungs. Xenpozyme’s approval came after a randomized, double-blind, placebo-controlled study of 31 patients. After analyzing Xenpozyme against a placebo, the FDA concluded that the drug is effective at improving lung function, reducing liver size and reducing spleen swelling.

While Xenpozyme can assist the quality of life for patients living with ASMD, side effects may occur, including:

  • Headache
  • Coughing
  • Fever
  • Joint pain
  • Diarrhea
  • Low blood pressure

Additionally, Xenpozyme carries a boxed warning for severe reactions, including anaphylaxis.

Xenpozyme was fast-tracked for approval as a breakthrough therapy with priority designation. The drug also received designations that provide incentives to assist and encourage the development of drugs for rare diseases.

Dr. Christine Nguyen, M.D., Deputy Director of the Office of Rare Diseases, Pediatrics, Urologic, and Reproductive Medicine at the FDA’s Center for Drug Evaluation and Research, stated, “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.” 

Dr. Nguyen highlighted the challenges of developing treatments for rare diseases like ASMD and the significant benefit for patients with ASMD and their families.