Efficacy of evinacumab by genotype and low-density lipoprotein receptor function in patients with homozygous familial hypercholesterolaemia: A subanalysis from the ELIPSE open-label extension study

BACKGROUND AND AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder caused primarily by variants in both alleles of the gene encoding the low-density lipoprotein receptor (LDLR). This subanalysis of the ELIPSE open-label extension (OLE) study assessed the efficacy of evinacumab, an angiopoietin-like 3 inhibitor, by genotype and LDLR function in patients with HoFH. METHODS: Patients aged ≥12 years with HoFH on stable lipid-lowering therapies received evinacumab 15 mg/kg intravenously every 4 weeks. Patients were grouped according to genotype: bi-allelic monogenic identical variants (true homozygous) or bi-allelic monogenic different LDLR variants (compound heterozygous); and by LDLR function: null/null variants resulting in