Long-term efficacy and safety of lomitapide in patients with familial chylomicronemia syndrome: Data from an expanded access program

Background Familial chylomicronemia syndrome (FCS) is a rare, severe, autosomal recessive disorder characterized by extremely high triglyceride (TG) levels and an increased risk of acute and/or recurrent pancreatitis. Lomitapide, a microsomal triglyceride transfer protein (MTP) inhibitor, is approved for the treatment of homozygous familial hypercholesterolemia. The open-label, single-arm LOCHNES study (EudraCT 2018-002911-80) investigated lomitapide in adult patients with genetically confirmed FCS and a history of pancreatitis, demonstrating its efficacy and tolerability. Methods Fourteen patients previously enrolled in the LOCHNES study were admitted to the Lomitapide Expanded Access Program 2 months after study completion. They were followed every 3 months over a nearly 3-year period (median follow-up: 33 months), continuing lomitapide at the maximum tolerated dose established during the trial. Evaluations included lipid profile, liver function tests, hepatic fat content, and liver stiffness. Results At th