Certain individuals need to follow a strict low-fat diet at all times, not to control their weight, but simply to stay alive. In fact, this is the only way to save patients suffering from hereditary lipoprotein lipase (LPL) deficiency, a disorder affecting the metabolism of organic fats. But there is good news: a drug tested by Québec researchers has just been approved for use in Europe. And this treatment could soon make its way across the ocean.
There are at least 45,000 carriers of this mutation in the province of Québec.
LPL deficiency, also called "hereditary hypercholesterolemia", is an extremely rare disorder linked to a defective gene. Affected individuals produce little or no lipoprotein lipase, the enzyme responsible for converting fat molecules known as "triglycerides" into the energy necessary for the functioning of the body's cells. Without LPL, fat builds up in the blood stream and can block blood vessels, leading to severe abdominal pain, cardiovascular problems, diabetes and potentially fatal acute pancreatitis.
The disorder affects only one person per million worldwide, but there are at least 45,000 carriers of this mutation in the province of Québec. In fact, the French-Canadian population presents the highest rate of the disease worldwide. That is why the European company UniQure called on Dr. Daniel Gaudet, a researcher at Université de Montréal, and Dr. André Carpentier, a researcher at the Sherbrooke University Hospital Centre (CHUS), to validate the effects of its drug Glybera® on human subjects. The first gene therapy to be approved in the western world, Glybera® uses a deactivated virus to deliver intact copies of the LPL gene to muscle cells, in order to reprogram the production of the "anti-fat" enzyme.
"Our measurements showed that the treatment decreases triglyceride levels by up to five times, resulting in lower—or even zero—rates of pancreatitis", reports André Carpentier, whose analysis contributed to the approval of Glybera® for commercialization by the European Commission. The endocrinologist is currently discussing plans for further trials in order to collect more data and have the drug authorized for use in North America.