Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency (LAL D)

 What is LAL D?

LAL D is a rare genetic condition, in which sufferers are deficient in lysosomal acid lipase. This lipase plays a key role in the regulation of cholesterol and triglyceride metabolism throughout the body. Without enough LAL to process these products, they accumulate in tissue affecting mainly the liver, spleen, adrenal glands, lymph nodes and small intestine.

How common is LAL D?

LAL D is a rare disease, with estimates of its occurence in children and adults ranging from 1:40,000 and 1:300,000

How does LAL D affect individuals?

Children and adults commonly show various liver dysfunctions and an abnormal amount of lipids in bloods. Individuals may also present gastrointestinal symptoms and cardiovascular problems, such as coronary artery disease.

Infants will show symptoms of the disease within the first few days to the first month of life, the first of these symptoms typically including vomiting and diarrhea and growth failure.

How is LAL D diagnosed?

LAL D can be diagnosed with a simple blood test.


On September 1st, Alexion Pharmaceuticals announced that the European Commission (EC) has approved Kanuma™ (sebelipase alfa) for long-term enzyme replacement therapy (ERT) in patients of all ages with lysosomal acid lipase deficiency (LAL-D).

Kanuma is a highly innovative enzyme replacement therapy (ERT) designed to address the underlying cause of LAL-D. The approval of Kanuma applies to all 28 EU member states as well as Iceland, Norway, and Lichtenstein and was granted under the accelerated assessment procedure. The decision follows the June 2015 positive opinion granted by the Committee for Medicinal Products for Human Use (CHMP). In addition, the U.S. Food and Drug Administration granted Breakthrough Therapy designation for Kanuma for LAL Deficiency presenting in infants and accepted the Kanuma BLA (Biologics License Application) for Priority Review.

The approval of Kanuma in the EU was based on data from two clinical studies and a supporting open-label extension study comprising infant, pediatric, and adult patients with LAL-D. Study results showed significant benefit in terms of survival (67%, or 6 out of 9) in patients with the infant form of LAL-D beyond 12 months, compared with 0 out of 21 patients in an untreated historical cohort. Infant patients treated with Kanuma also had improvements in liver parameters, including ALT and AST, as well as weight gain within the first several weeks of treatment. In pediatric and adult patients with LAL-D, treatment with Kanuma resulted in normalization of ALT, reduction in liver fat content and other markers of liver injury compared to placebo, as well as significant improvements in lipid accumulation as measured by LDL-C and HDL-C. In patients who received Kanuma during the double-blind period and subsequently entered the open-label extension period, reductions in ALT levels were maintained and further improvements were seen in LDL-C and HDL-C.

To read the full press release from Alexion, please visit their website.