Study Population
xanthoma
XANTHOMA, HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, HOFH
The study included participants aged ≥18 years with genetic confirmation or clinical diagnosis of HoFH on the basis of a history of an untreated LDL-C concentration >500 mg/dL (13 mmol/L) together with either xanthoma before 10 years of age or evidence of heterozygous familial hypercholesterolemia in both parents. Patients were eligible for inclusion if they had a fasting LDL-C level ≥130 mg/dL (≥3.4 mmol/L) despite receiving a maximally tolerated dose of statin therapy with or without ezetimibe. Patients receiving anti-PCSK9 therapies within 90 days of screening were excluded. Details on the inclusion and exclusion criteria are provided in the All patients were instructed to follow a National Cholesterol Education Program Adult Treatment Panel III (or comparable) diet and required to maintain their current LDL-C–lowering drug therapy for the duration of the study.Patients with a documented regimen of LDL or plasma apheresis were allowed to continue the regimen during the study with similar frequency and timing as baseline. When apheresis was performed on a study visit (dosing or non-dosing visit), blood samples for the measurement of LDL-C and other lipid levels were collected and laboratory assessments were undertaken before the apheresis. When apheresis was performed on a dosing visit, inclisiran was administered just after the completion of apheresis. No apheresis was performed within 72 hours after dosing of inclisiran. The subsequent study visits were planned to occur at least 2 weeks after apheresis to ensure LDL-C levels measured during a study visit were not confounded by apheresis.