Rare disease can cause serious liver and cardiovascular conditions.
The FDA today approved a new treatment for lysosomal acid lipase (LAL) deficiency, a rare disease that can cause liver and cardiovascular problems.
Sebelipase alfa (Kanuma) is the first treatment approved for LAL deficiency, which is also referred to as Wolman disease and cholesteryl ester storage disease (CESD), and is characterized by little to no LAL enzyme activity.
LAL deficiency causes the build-up of fats within the cells of various tissues, which can cause liver and cardiovascular disease, in addition to other complications. The rapidly progressive Wolman disease frequently manifests around 2 to 4 months of age, with patients rarely living passed their first year of life. It affects 1 to 2 infants per million births.
The milder CESD presents in early childhood or later, with life expectancy dependent on disease severity and associated complications. It affects 25 individuals per million births.
An application for Kanuma was approved by The Center for Veterinary Medicine (CVM) for a recombinant DNA (rDNA) construct in genetically engineered (GE) chickens that produce a recombinant form of human lysosomal acid lipase protein in egg whites. Kanuma is purified from these egg whites.
The Center for Drug Evaluation and Research approved Kanuma based on safety and efficacy findings in human patients with LAL deficiency.
CVM evaluated the safety of the rDNA construct after a full review of the construct and stability of the drug in the chicken genome over several generations, with no adverse outcomes observed.
The most common side effects in human patients treated with Kanuma were diarrhea, vomiting, fever, rhinitis, anemia, cough, headache, constipation, and nausea.