Lipid profile in pediatric and adult patients with lysosomal acid lipase deficiency treated with sebelipase alfa: longitudinal evidence from the International LAL-D Registry.

BACKGROUND AND AIMS: Dyslipidemia, including elevated low-density lipoprotein cholesterol (LDL-C) and decreased high-density lipoprotein cholesterol (HDL-C), is common among patients with lysosomal acid lipase deficiency (LAL-D). The aim of this analysis was to assess the lipid profile of patients with LAL-D treated with sebelipase alfa enzyme replacement therapy. METHODS: Children and adults enrolled in the International LAL-D Registry who had a confirmed diagnosis of LAL-D were treated with sebelipase alfa, and had not received lipid-modifying medications were included. The proportions of patients with lipid parameters outside the limits of normal or clinically relevant cutoffs were analyzed before first treatment (baseline) and for up to 3 years of follow-up. RESULTS: Data from 144 patients (median age at diagnosis, 9.5 years; 92% White; 54% male) were analyzed. From baseline to after 1 year of sebelipase alfa treatment, decreases were observed in the proportion of patients with LDL-C >160 mg/dL (78% to 46%), non-HDL-C >190 mg/dL (70% to 47%), and triglycerides above the upper limit of normal (63% to 32%); the proportion of patients with HDL-C at or above the lower limit of normal increased (21% to 35%). Results were sustained through 3 years of follow-up and were similar in a cohort of patients who had results for all lipid components over 3 consecutive years of treatment. CONCLUSIONS: In patients with LAL-D not receiving lipid-modifying medication, sebelipase alfa treatment improved lipid abnormalities, with sustained reductions of LDL-C and triglycerides and elevations of HDL-C.