A new study by researchers at the University of Pennsylvania has shown that lomitapide “substantially and stably” reduced levels of LDL cholesterol in patients with homozygous familial hypercholesterolemia (HoFH). Lomitapide is a microsomal triglyceride transfer protein (MTP) inhibitor that works by inhibiting MTP, which is necessary in the production of precursors to LDL cholesterol.

Patients with HoFH, which is a rare condition, have elevated blood levels of cholesterol. Their genetic mutations in the LCL receptor gene impair the liver’s ability to remove LDL from blood. According to researchers, those with HoFH often develop heart and vascular disease during childhood, and their average age at death is 30 years old. Current treatments for high cholesterol have not proven effective for HoFH patients, and the only currently effective therapy is apheresis, which involves removing LDL cholesterol from the blood every one to two weeks by running it through machines.

The study looked at 29 adult HoFH patients, 23 of whom completed all phases of the trial. The patients received lomitapide during the six-month trial, as well as conventional lipid-lowering therapies. Results show that LDL-C levels in the patients were reduced by an average of 50% at the end of the efficacy phase of the trial, and around one third of the patients saw LDL-C levels that were “close to recommended therapeutic goals.” Overall, the patients average LDL-C levels were down 38% at the end of the study.

“The magnitude of this reduction in LDL-C and the fact that some patients reached or approached the LDL-C therapeutic goals is truly remarkable for this high risk population that historically doesn’t respond to lipid-lowering drugs,” said Dr. Marina Cuchel, lead author of the study and research assistant professor of Medicine at the University of Pennsylvania School of Medicine. “A reduction in LDL-C of this magnitude is certainly expected to favorably alter the clinical course of this devastating disease.”