Alexion Pharmaceuticals, Inc. announced that the U.S. FDA has approved Kanuma (sebelipase alfa) as the first treatment for patients with a rare disease known as lysosomal acid lipase (LAL) deficiency.  Patients with LAL deficiency (also known as Wolman disease and cholesteryl ester storage disease [CESD]) have no or little LAL enzyme activity. This results in a build-up of fats within the cells of various tissues that can lead to liver and cardiovascular disease and other complications. Wolman disease often presents during infancy (around 2 to 4 months of age) and is a rapidly progressive disease. Patients with Wolman disease rarely survive beyond the first year of life.

Kanuma is an innovative enzyme replacement therapy that addresses the underlying cause of lysosomal acid lipase deficiency (LAL-D) by reducing substrate accumulation in the lysosomes of cells throughout the body.  The FDA approved Kanuma under Priority Review, and had previously granted Breakthrough Therapy Designation for Kanuma for LAL-D presenting in infants.  Kanuma is also approved in the European Union, and a New Drug Application for Kanuma has been submitted to Japan’s Ministry of Health, Labour and Welfare.