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Lysosomal acid lipase deficiency — an autosomal recessive storage disease that commonly manifests as elevated liver enzymes, dyslipidemia, hepatomegaly, and liver fibrosis — is an underappreciated cause of cirrhosis in both children and adults.
In a manufacturer-sponsored, multicenter, phase III, double-blind trial, researchers evaluated the efficacy of sebelipase alfa enzyme replacement in patients aged ≥4 years with this disorder. Participants were randomized to receive intravenous sebelipase alfa (1 mg/kg) or placebo every other week for 20 weeks, after which all received open-label sebelipase alfa.
At baseline, 58% of the 66 participants had LDL cholesterol levels ≥190 mg/dL, and 31% of the 32 patients who underwent liver biopsy had cirrh…