An Innovative Drug Treats High Triglyceride Levels in a Rare Genetic Disease

Sapienza University recently participated into an international study that has demonstrated that volanesorsen reduces the risk of acute pancreatitis, a possible cause of death in many patients affected by Hyperchylomicronemic Syndrome. The study has been published on the New England Journal of Medicine

Hyperchylomicronemic Syndrome is a rare genetic disease caused by a serious deficit in the enzymatic system that treats triglycerides in the blood, especially those formed after a meal. The syndrome is characterized by extremely high triglyceride levels (2000-3000 mg/dl as opposed to normal levels inferior to 150 mg/dl) and presents a high risk of acute pancreatitis, a complication that not only destroys the pancreas, but exposes is fatal to many patients.

Professor Marcello Arca from the Sapienza Department of Internal Medicine and Medical Specialties participated in an international study that has demonstrated the efficacy of a new drug, called volanesorsen, to cure patients affected by this disease. The study, published on the New England Journal of Medicine, reveals that this new drug significantly reduces triglyceride levels.

In particular, the drug blocks the gene expression of a protein that hinders the metabolism of triglycerides. Neutralising this protein activates the elimination of these fats from the blood. During treatment, patients who received the drug by injection once a week experienced a 77% reduction of triglyceride levels after just 3 months. The reduction proved stable through the end of the study. Moreover, most patients who underwent this treatment had values below the pancreatitis risk threshold level.

“Our work,” explains Marcello Arca, “provides us with optimism for the cure of such a rare disease. The drug must be administered by experts as it can cause adverse effects that are nonetheless controllable, according to our study. We trust that the Italian Pharmaceutical Agency will approve use of this new drug in Italy.”

The results of the study, which have been approved by the European Medicines Agency (EMA), open the road to possible cures and lay the foundations for the first innovative therapies against this rare disease.

References:

Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome - Joseph L. Witztum, M.D., Daniel Gaudet, M.D., Ph.D., Steven D. Freedman, M.D., Ph.D., Veronica J. Alexander, Ph.D., Andres Digenio, M.D., Ph.D., Karren R. Williams, Ph.D., Qingqing Yang, M.D., Steven G. Hughes, M.B., B.S., Richard S. Geary, Ph.D., Marcello Arca, M.D., Erik S.G. Stroes, M.D., Ph.D., Jean Bergeron, M.D., et al. - August 8, 2019 N Engl J Med 2019; 381:531-542 DOI: 10.1056/NEJMoa1715944