Loading...
Gaucher disease is a liposomal storage disorder characterized by accumulation of glucosyl-ceramide in monocytes and macrophages, resulting in hepatosplenomegaly, anemia, thrombocytopenia, and bone disease. Most patients are deficient in glucocerebrosidase and require replacement of this enzyme; the recombinant enzyme is given intravenously every 2 weeks and is expensive. Enzyme treatment can be supplemented with miglustat, an oral inhibitor of glucosylceramide synthase (GCS), but diarrhea, weight loss, and peripheral neuropathy limit the usefulness of this drug.
To assess the safety and effectiveness of a new oral GCS inhibitor, eliglustat, investigators conducted an industry-funded, multicenter, randomized, double-blind, placebo-controlled …