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New Treatment Approved by FDA for Lysosomal Acid Lipase Deficiency

The Food and Drug Administration (FDA) approved a drug called sebelipase alfa (Kanuma) as the first-ever treatment for lysosomal acid lipase deficiency (LAL)—a rare inherited disorder.


LAL deficiency causes a build-up of fats within the cells of various tissues that can lead to liver and cardiovascular diseases and other complications.

According to Medpage Today, the condition is also known as Wolman disease when it manifests shortly after birth; a milder form, called cholesteryl ester storage disease (CESD), presents later in childhood. Wolman disease affects about 1–2 infants per million births and patients seldom live more than a few months; CESD is observed in about 25 individuals per million births, the FDA said.

The efficacy of sebelipase alfa was tested in 2 trials. In the first trial, 9 infants with Wolman disease received the drug open-label. Six of infants survived to 1 year of age, the FDA said, compared with none in a cohort of historical controls.

The second trial, which was double-blinded and placebo-controlled, involved 66 pediatric and adult patients with CESD, reported Medscape. After 20 weeks of therapy, the patients who received sebelipase alfa had statistically significantly reduced levels of low-density lipoprotein cholesterol and had improvements in other disease metrics, compared with patients receiving the placebo. No adverse events were observed.

The FDA’s Center for Veterinary Medicine approved the application for genetically engineered chickens to produce the recombinant form of human lysosomal acid lipase (rhLAL) in their egg whites. The FDA regulates genetically engineered animals under the new animal drug provisions of the Federal Food, Drug, and Cosmetic Act, because introduction of a recombinant DNA construct into an animal to change its structure or function meets the definition of a drug.

Mesdscape explained that the Center for Veterinary Medicine assessed the safety of the recombinant DNA construct in chickens and its stability in the animal’s genome over several generations. They determined that approving the genetically engineered chickens for medicinal purposes “does not cause any significant impact on the environment, because the chickens are raised in highly secure indoor facilities,” said the FDA.

The FDA’s Center for Drug Evaluation and Research (CDER) approved the human therapeutic biologic purified from the egg whites, based on its safety and efficacy in patients.

The treatment is provided via intravenous infusion once weekly in patients with rapidly progressive LAL deficiency that presents in the first 6 months of life, and once every other week in all other patients.

According to the FDA, the most common side effects observed were diarrhea, vomiting, fever, rhinitis, anemia, cough, headache, constipation, and nausea.

The drug is produced by Alexion Pharmaceuticals in Cheshire, Connecticut. The company was granted a rare pediatric disease priority review voucher –– a provision intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.

The FDA also granted sebelipase alfa orphan drug status, because it treats a rare disease affecting fewer than 200,000 patients in the US.

Janet Woodcock, director of the CDER, told Medscape “Using this technology, these patients for the first time ever have access to a treatment that may improve their lives and chances of survival.” Sebelipase alfa is 41st novel drug approved by the FDA in 2015, matching the 2014 total, which was the highest in 17 years.

Analysts project that Kanuma will have sales of $693 million in 2020, said the San Francisco Chronicle, although the company will not state the predicted price of the treatment.

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Kristine Novak

Kristine Novak

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About The Author:

Dr. Kristine Novak

Dr. Kristine Novak

Dr. Kristine Novak is a science writer and editor based in San Francisco. She has extensive experience covering gastroenterology, hepatology, immunology, oncology, clinical, and biotechnology research discoveries.

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