First treatment for acid sphingomyelinase deficiency approved in Japan

The Japan Ministry of Health, Labor and Welfare has authorized Xenpozyme for the treatment of adult and pediatric patients with non-central nervous system manifestations of acid sphingomyelinase deficiency.

Xenpozyme (olipudase alfa, Sanofi), a recombinant human acid sphingomyelinase enzyme, is currently the first and only approved treatment for acid sphingomyelinase deficiency (ASMD), a rare, progressive and potentially life-threatening genetic disease, the company said in a press release.

“The approval of Xenpozyme is a watershed moment for ASMD patients and their families, representing 20 years of research and the shared efforts of advocacy partners, clinicians and patients,” John Reed, MD, PhD, Sanofi’s executive vice president and global head of research and development, said in the release. “As the world’s first medicine approved for ASMD, Xenpozyme offers a potentially transformative option for this historically neglected community.”

According to Sanofi, Xenpozyme was developed to replace deficient or defective acid sphingomyelinase, an enzyme allowing the breakdown of the lipid sphingomyelin. Accumulation of sphingomyelin cells can be harmful to the lungs, spleen and liver.

Xenpozyme is Sanofi’s first therapy to be approved under Japan’s SAKIGAKE (“pioneer”) designation, the government’s fast-track pathway to promote research and development of new medical products. The approval is based on positive results from adult and pediatric trials, which showed Xenpozyme improved lung function and reduced spleen and liver volumes. It was well-tolerated in adults and children with ASMD.

Xenpozyme has been evaluated to treat non-CNS manifestations of ASMD types A/B and B , but it has not been studied in those with ASMD type A, the company said.

A Biologics License Application for the treatment was accepted for priority review by the FDA. A decision for use in the U.S. is expected in the third quarter of 2022 , according to the release .