First gene therapy in West, for a rare disease, on the horizon

The long-frustrated field of gene therapy is about to reach a major milestone: the first regulatory approval of a gene therapy treatment for disease in the West. The European Medicine Agency’s Committee for Medicinal Products for Human Use said Friday that it is recommending approval of Glybera, a treatment for lipoprotein lipase deficiency manufactured by uniQure of Amsterdam. The European Commission generally follows the recommendations of the agency, and if it does so this time, the product could be available in all 27 members of the European Union by the end of the year.

Lipoprotein lipase deficiency is a rare disease, a so-called orphan disease, that affects one or two of every million people. As the name suggests, it is the result of a deficiency of an enzyme called lipoprotein lipase. This enzyme breaks down large, fat-carrying molecules, called chylomicrons, that circulate in the blood following meals. When the enzyme is defective, the chylomicrons accumulate, turning the blood almost milky white and blocking small blood vessels, producing severe inflammation of the pancreas -- called pancreatitis. The severe pain typically requires hospitalization. There is currently no treatment for the disease other than regulation of the diet.

Glybera is an active form of lipoprotein lipase that is injected into the patient’s legs in a series of shots at one sitting. Clinical trials conducted in 27 people by Dr. Daniel Gaudet of the University of Montreal show that the injections are long-lasting and provide at least partial control of lipoprotein lipase deficiency with no apparent adverse effects. Bouts of pancreatitis are fewer and less severe following treatment.

The European agency had rejected Glybera three times in the past year, citing insufficient evidence of benefit, before unexpectedly reversing its decision and recommending approval. The approval decision was for patients with the most severe form of the disease, and the agency said that the company would be required to monitor patients and provide data to regulators.

UniQure said it will apply for approval in the United States, but is not sure when.

The only previous approval of a gene therapy product is a cancer treatment that has been approved in China.

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