Familial Chylomicronemia Syndrome (FCS) Clinical Trials

Familial Chylomicronemia Syndrome is caused by mutations in genes that control how the body breaks down certain types of fat after eating. Without working enzymes to process triglycerides, dangerous levels accumulate in the bloodstream. The most serious complication is acute pancreatitis, which can be life-threatening and occur repeatedly, leading to permanent pancreatic damage over time.

The most common symptoms of Familial Chylomicronemia Syndrome include Severe abdominal pain, often from repeated pancreatitis episodes, Extremely high triglyceride levels in blood (often above 1,000 mg/dL), Nausea and vomiting, Fatigue and low energy, Fatty yellow bumps on skin (eruptive xanthomas), among others. Familial Chylomicronemia Syndrome affects approximately 1 to 2 per 1,000,000 people globally. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Familial Chylomicronemia Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Clinical trials for FCS are evaluating new ways to manage triglyceride levels and prevent pancreatitis. Two medicines are now FDA-approved for adults with FCS, both used with a very low-fat diet: Tryngolza (olezarsen), a monthly injection approved in December 2024, and Redemplo (plozasiran), an injection every 3 months approved in November 2025.

Yes. As of September 2026, Trial Friend lists 2 FDA-approved drugs used to treat Familial Chylomicronemia Syndrome: Tryngolza (olezarsen), first approved in 2024; and Redemplo (plozasiran), first approved in 2025.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Familial Chylomicronemia Syndrome is caused by variants in the LPL gene. Biallelic LPL variants are the classic cause of FCS (type I hyperlipoproteinemia); a minority of cases involve other genes needed for lipoprotein lipase function.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. The condition affects approximately 1 to 2 per 1,000,000 people globally. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Familial Chylomicronemia Syndrome looks at the LPL gene. Biallelic LPL variants are the classic cause of FCS (type I hyperlipoproteinemia); a minority of cases involve other genes needed for lipoprotein lipase function.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Familial Chylomicronemia Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Familial Chylomicronemia Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.