Lomitapide proves effective in lowering cholesterol levels in rare genetic disease

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Life Style

Nov 2, 2012

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Lomitapide proves effective in lowering cholesterol levels in rare genetic disease

According to a study published in the Lancet, lomitapide, a drug used to treat familial hypercholesterolaemia, had promising results in a phase 3 clinical study. The study was conducted by a team of researchers from the Perelman School of Medicine at the University of Pennsylvania.Lomitapide is a drug that inhibits microsomal triglyceride transfer protein (MTP), and is used to lower cholesterol. MTP is a protein involved in VLDL formation, very low density lipoprotein, which is a precursor of LDL. LDL cholesterol is known as bad cholesterol and is involved in atherosclerosis. High levels of LDL may be a consequence of a high-fat diet but in some cases may be caused by genetic factors, such as homozygous familial hypercholesterolemia orphan disease (HoFH).

Lomitapide

MTP role was sensed by Dr. Daniel J. Rader now more than 20 years ago when he made the first discoveries about the genetic basis of HoFH. Senior study author, Chief and Division of Translational Medicine and Human Genetics, Dr. Rader found that MTP is a therapeutic target for this disease in the early 1990s. Rader and his colleagues then developed and improved an inhibitor of this protein,lomitapide, that is used to lower high cholesterol levels.HoFH is a rare disease characterized by very high levels of cholesterol (above 500mg/dl) and is due to mutations in the LDL receptor gene. In HoFH, LDL cholesterol is not transported from the blood to the liver, which means that the blood remains with an excess of cholesterol that will be deposited on artery walls. Duration of survival is low because patients with HoFH develop cardiovascular disease (stroke, heart attack), and treatment is limited. Although there are several drugs that lower cholesterol, HoFH patients are unresponsive to usual treatment (statins). A method somewhat effective treatment is apheresis, that is filtering blood cholesterol. But this method is time consuming.

Lomitapide has proven effective in lowering cholesterol levels in a study conducted on twenty-nine patient’s form all over the world. The patients enrolled in the study received an average of 40mg per day of lomitapide, along with other treatments to lower cholesterol (statins and apheresis). It was noted that cholesterol levels decreased by 50%. In addition, 30% of patients had cholesterol levels below 100mg/dl at some point during the study. Study’s lead author, Marina Cuchel, MD, PhD, research assistant professor of Medicine at Penn, said the findings are especially remarkable because these patients do not respond to conventional therapy.Lomitapide is expected to be approved by the FDA later this year for the treatment of familial hypercholesterolemia.