FDA Gives Approval To Alexion Drug As Treatment For Ultra Rare Genetic Disease

Kanuma™ (sebelipase alfa)

The ultra-rare genetic disease known as lysosomal acid lipase deficiency (LAL-D) or Wolman disease can cause multiple organ failure or premature death to those who are diagnosed with it.

For the past few years, the absence of any LAL-D treatment has led to nearly always fatal cases for infant patients, as well as high risks for organ damage and premature death cases in adult patients, experts said.

Now, the United States Food and Drug Administration approved the use of Kanuma (sebelipase alfa), a drug manufactured by Alexion Pharmaceuticals, Inc., in the treatment of LAL-D.

Kanuma is the first FDA-approved enzyme replacement therapy (ERT) for the disease.

“I am delighted that patients with LAL-D now have the first approved therapy that treats the underlying cause of the disease,”said Dr. Barbara Burton, lead investigator of the clinical trials involving Kanuma.

In replacement of inactive, missing or partially inactive LAL protein in patients, Kanuma provides an rhLAL protein that functions the same way. Kanuma is produced by genetically-engineered chickens that contain an rDNA construct responsible for producing rhLAL protein in their egg whites, experts said.

To extract the rhLAL protein, the GE chicken’s egg whites are refined. Eventually, the material is used to create Kanuma. The GE chickens are only assigned for producing the drug substance. The GE chicken or its eggs are not allowed in the food supply, researchers said.

“Using this technology, these patients for the first time ever have access to a treatment that may improve their lives and chances of survival,” said Janet Woodcock, director of drug evaluation at FDA.

 The FDA said the ERT is to be provided through an intravenous infusion once weekly in patients with rapidly progressive LAL-D in the first six months of life. The therapy will also be provided for other LAL-D patients once every other week.

The FDA’s Center for Drug Evaluation and Research (CDER) examined the safety and efficacy of Kanuma in an open-label trial involving nine infants with Wolman disease, and in a placebo-controlled, double-blind trial involving adult and pediatric patients with Wolman disease.

In the clinical studies, about 67 percent of infants who received ERT survived beyond 12 months of age. Adults and children diagnosed with Wolman disease also had significant improvements in multiple disease-related lipid and liver abnormalities.

Researchers said that the side effects observed in patients treated with Kanuma included cough, fever, vomiting, anemia, constipation, headache, nausea and rhinitis.