A novel approach for the treatment of lysosomal acid lipase deficiency nonresponsive to conventional therapy regimen

Abstract

Lysosomal acid lipase deficiency (LAL-D), or cholesterol ester storage disease, is a rare inherited lipid metabolism disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. The case of a 9 year old patient with growth retardation and hepatosplenomegaly had a confirmed diagnosis of LAL-D. The initial response to the recommended Sebelipase alfa enzyme replacement therapy in a biweekly infusion regimen was suboptimal; elevated lipid levels and transaminase elevations continued. After dose escalation by increasing the dose per infusion from 2.2mg/kg to 2.5mg/kg and change from a biweekly to a weekly infusion regimen resulted in significant improvement in the total cholesterol, triglycerides, low density lipoprotein and transaminases. To our knowledge this is the first report in the US on dose escalation and infusion frequency increase in a patient of this age, which resulted in improved short term outcome.