FDA approves first drug for adults, children with rare enzyme disorder

Genetically engineered chickens were needed to produce Kanuma (sebelipase alfa), newly approved by the FDA to treat lysosomal acid lipase deficiency (LAL-D), a genetic and progressive ultra-rare metabolic disease in which patients suffer multi-organ damage and premature death.

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Manufactured by Alexion Pharmaceuticals, Kanuma is the first therapy approved in the United States to treat LAL-D. LAL-D is also known as Wolman disease and cholesterol ester storage disease (CESD).

FDA’s Center for Veterinary Medicine approved one part of the new drug: A recombinant DNA (rDNA) construct in chickens that are genetically engineered (GE) to produce a recombinant form of human lysosomal acid lipase (rhLAL) protein in their egg whites.

The egg whites are refined to extract the rhLAL protein that is eventually used to produce Kanuma and treat patients with LAL deficiency. The GE chickens are used only for producing the drug substance, and neither the chicken nor the eggs are allowed in the food supply, according to FDA.

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“Importantly, the label includes a survival benefit in infants and reductions in important markers of liver disease, including ALT and liver fat content, as well as significant improvements in lipid parameters, in children and adults,” said David Hallal, CEO of Alexion.

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

FDA evaluated the safety and efficacy of Kanuma in an open-label, historically controlled trial in nine infants with rapidly progressive Wolman disease and in a double-blind, placebo-controlled trial in 66 pediatric and adult patients with CESD. In the trial in infants with Wolman disease, 6 of 9 infants (67%) treated with Kanuma were alive at 12 months of age, whereas none of the 21 infants in the historical control group survived.

In the trial in CESD patients, there was a statistically significant improvement in LDL-cholesterol levels and other disease-related parameters in those treated with Kanuma versus placebo after 20 weeks of treatment.

The most common side effects observed in patients treated with Kanuma are diarrhea, vomiting, fever, rhinitis, anemia, cough, headache, constipation and nausea.

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