Posted by Michael Wonder on 15 Feb 2017
NICE rejects Alexion’s rare disease therapy Kanuma
15 February 2017 - NICE has published a final evaluation determination rejecting the use of Alexion's Kanuma to treat infants, children and adults with the rare inherited genetic disorder lysosomal acid lipase deficiency.
Lysosomal acid lipase deficiency (LAL-D) is an enzyme that is responsible for breaking down fats in a part of the cell called the lysosome. Since the LAL enzyme is missing, or deficient, the fats build up in cells primarily in the liver, gastrointestinal and cardiovascular systems, leading to multi-organ damage and potential premature death.
Alexion said it is disappointed with the decision, noting that infants with LAL-D normally do not live to see their first birthday without treatment. In children and adults with LAL-D, around 50% could progress to liver complications such as fibrosis or cirrhosis or need a liver transplant within three years of starting symptoms.
