According to a story from EurekAlert!, the results of a recent clinical trial should get the attention of patients in the US with the rare disorder familial chylomicronemia syndrome. The drug volanesorsen was able to have a considerable impact on the blood fat levels of patients in a phase III clinical trial. With these encouraging findings, there is a good chance that it could be approved by the FDA as a treatment.
About Familial Chylomicronemia Syndrome (FCS)
Familial chylomicronemia syndrome, which is also known as lipoprotein lipase deficiency, is a rare genetic disorder which is characterized by the inadequate production of lipoprotein lipase due to a defective gene. This results in very high levels of triglycerides. The signs and symptoms of the condition include fat deposits under the skin and stomach pain. Without intervention, the disorder can lead to liver problems and pancreatitis. This can also eventually cause the patient to develop diabetes. When the syndrome first appears, it often presents with failure to thrive and colicky pain. Treatment for familial chylomicronemia syndrome often involves a strict diet that is low in fat and simple carbs. Lipid lowering drugs can also be of some use. In the EU, there is a gene therapy available for patients who experience severe symptoms despite diet restrictions, but only one patient has ever used it. To learn more about familial chylomicronemia syndrome, click here.
The clinical trial included a total of 66 affected patients. This was a double-blind study, so half of the patients were treated with volanesorsen and the other half received a placebo. The results of treatment speak for themselves. The drug reduced triglycerides by 77 percent on average, whereas the placebo group saw the triglycerides increase by an average of 18 percent. Volanesorsen was delivered in a 300mg dose under the skin and was administered one time per week. Patients ranged in age from 20 to 75 years. Side effects included skin reactions from the injections and reduced platelet count.
Another encouraging sign is that volanesorsen was recently approved in the EU for familial chylomicronemia in patients with elevated risk of pancreatitis who haven’t been able to successfully reduce their blood triglyceride with other medications and diet changes. Hopefully it will only be a matter of time before the FDA decides to follow suit and approve the therapy.
The original trial results were published in the New England Journal of Medicine.