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European Patent Issued for Rare Liver Disease Drug

Illustration of liver

(National Library of Medicine, NIH)

18 February 2015. Synageva BioPharma Corp., a biopharmaceutical company developing therapies for rare diseases, received a European patent on its treatment for lysosomal acid lipase deficiency, an inherited disease causing severe disruptions and injuries to the liver. The European Patent Office issued patent number EP2613798 B1 on 11 February to inventor Anthony Quinn, Synageva’s chief medical officer, and assigned to the company as patent owner.

Lysosomal acid lipase deficiency results from a mutation in the lipase A – lysosomal acid – cholesterol esterase gene, also known as the LIPA gene that produces lysosomal acid lipase, or LAL, an enzyme that breaks down lipids or fats. The broken-down lipids, such as cholesteryl esters and triglycerides, then go to the liver for removal from the body. Because of a mutation in the LIPA gene, people with LAL deficiency do not produce enough effective lysosomal acid lipase that causes lipids to accumulate in the liver tissue, as well as cardiovascular and gastrointestinal organs.

As a result, people with LAL deficiency experience life-threatening enlargement of the liver and spleen, dysfunction and fibrosis in the liver, cirrhosis, and eventually liver failure. Also known as Wolman disease or cholesteryl ester storage disease, LAL deficiency among infants occurs in 1 in 528,000 births, although among people of Jewish-Persian heritage, the rate is 1 in 4,200 births. Among older children and adults, the disease ranges from 1 in 40,000 to 300,000 individuals. Current treatment options for LAL deficiency are limited and involve relieving symptoms, such as drugs for lowering cholesterol.

The patent covers Synageva’s methods for treating LAL deficiency that produce an engineered replacement enzyme, known as sebelipase alfa, for the missing or defective lysosomal acid lipase. The patent describes the biochemistry of the replacement enzyme, as well as its functioning in the body, administration, and dosages. A similar U.S. patent was issued for the technology in March 2014.

Synageva, based in Lexington, Massachusetts, intends to market sebelipase alfa under the brand name Kanuma, which received orphan drug designation from U.S., European, and Japanese regulators. The U.S. Food and Drug Administration also granted Kanuma fast track and breakthrough therapy status, to speed review of the drug through the agency.

In June 2014, the company reported results of a late-stage clinical trial among 66 patients with LAL deficiency, where Kanuma met its primary objective of normalizing patient scores on a key indicator of liver injury, compared to patients receiving a placebo. The results also show patients receiving Kanuma improved on other liver conditions related to the disease. Another clinical trial is recruiting participants to test the drug among a broader cross-section of people with LAL deficiency.

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