November 01, 2019
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Organizations highlight developments in honor of Familial Chylomicronemia Syndrome Awareness Day

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Friday marks the second annual Familial Chylomicronemia Syndrome Awareness Day, a day dedicated to raising global observance of the challenges associated with the rare genetic disease and the critical need for treatment.

Familial chylomicronemia syndrome (FCS) is estimated to occur in 1 in 1 million to 2 million people, according to the National Pancreas Foundation, and can be diagnosed at any age. The disease is caused by impaired function of the enzyme lipoprotein lipase, which results in elevated triglyceride levels and significant risk and disease burden, including unpredictable and potentially fatal acute pancreatitis as well as chronic complications due to permanent organ damage. People with FCS report a reduced quality of life due to both the symptoms of FCS and needing to follow an extremely restricted low-fat diet.

As Healio previously reported, in May 2018 the Endocrinologic and Metabolic Drugs Advisory Committee of the FDA voted 12-8 in favor of supporting approval of the triglyceride-reducing drug volanesorsen (Waylivra, Akcea), which has been shown to lower cholesterol when used with a low-fat diet in people with genetically confirmed FCS at high risk for pancreatitis. The European Medicines Agency approved volanesorsen in May.

“We are very proud to recognize the second annual FCS Awareness Day, especially during an exciting time when the only treatment option for patients is available, which is giving hope to families affected by FCS around the world,” Damien McDevitt, PhD, interim CEO at Akcea, said in a press release. “With a treatment available in the EU, we are already seeing the benefits for patients in terms of their health and ability to perform daily activities. We remain on track to launch Waylivra in additional European countries in 2020 while we also continue to work for regulatory approval in the U.S. and additional geographies.”

In a statement, the patient advocacy organization CholCo in Germany said an available treatment has been shown to reduce triglyceride levels in people with FCS, which has been shown to correlate with a reduced risk for abdominal pain and potentially fatal attacks of pancreatitis.

Lindsey Sutton, co-founder of the FCS Foundation, said in a statement that the availability of a treatment in Europe brings “new levels of hope” for people in the U.S. and Canada living with the disease.

“The FCS community is motivated now more than ever to build on a year of amazing momentum and continue our fight for a treatment to be available to all patients with FCS no matter where they live,” Sutton, who has FCS, said in the release. – by Regina Schaffer

Disclosure: McDevitt is interim CEO at Akcea.