Right now, there are insufficient treatment options for familial chylomicronemia syndrome (FCS). Unfortunately, this means that individuals living with this rare genetic disease are left without much assistance. The only way to manage FCS is through a fat-free and alcohol-free diet, further limiting these individuals. Disease-specific treatment is urgently needed and can significantly improve prognoses.
Treatment and Research
Arrowhead Pharmaceuticals Inc. (“Arrowhead”) is working to develop a novel RNAi treatment option called ARO-APOC3 to overcome the current treatment challenges in this space. ARO-APOC3 is administered subcutaneously, or beneath the skin. People with familial chylomicronemia syndrome often have extremely high triglyceride levels. This causes health problems that can be life-threatening if not addressed. ARO-APOC3 works by stopping the body from producing as much apolipoprotein C-III which, in turn, slows down triglyceride production and helps clear triglycerides from the body. Learn more about ARO-APOC3.
The company shared in a May 2023 news release that they had fully enrolled their Phase 3 PALISADE study. Altogether, 75 adults living with familial chylomicronemia syndrome are taking part in this global study. During the trial, Arrowhead hopes to understand the differences in outcomes between a placebo, 25mg, or 50mg ARO-APOC3. Data from the study should be available at some point next year.
Familial Chylomicronemia Syndrome: An Overview
Lipoprotein lipase (LPL) is an enzyme that breaks down triglycerides in your body. As this occurs, the fatty molecules are either stored by the body or used in the moment for energy. Familial chylomicronemia syndrome is a rare inherited condition which stops lipoprotein lipase from working the way it should—or stops it from being produced at all. This condition can also be characterized by deficient or missing apolipoprotein C-III. When these triglycerides aren’t broken down, they build up alongside fat molecules called chylomicrons. Symptoms often begin in infancy or childhood but may initially be misdiagnosed as hypertriglyceridemia. Potential signs of FCS may include:
- An enlarged liver or spleen
- Nausea and vomiting
- Acute pancreatitis
- Memory loss
- Poor concentration
- Eruptive xanthomas (pinkish skin lesions)
- Loss of feeling in the feet or legs
- Type 2 diabetes
- Abdominal pain that may radiate to the back
These symptoms can be isolating. To manage them, people may have to miss school or work, making them feel like they can’t participate. That is why finding treatments is important: it isn’t just to improve their physical health, but their mental health as well.
