艾格司他 (Cerdelga)

概览

Eliglustat is a glucosylceramide synthase used to treat type 1 Gaucher disease in patients who are CYP2D6 extensive, intermediate, or poor metabolizers.

作用机制

Eliglustat is a glucosylceramide synthase inhibitor used for the treatment of type 1 Gaucher disease. Gaucher disease is a rare genetic disorder characterized by the deficiency of acid β-glucosidase, an enzyme that converts glucosylceramide (also known as glucocerebroside) into glucose and ceramide. In patients with Gaucher disease, glucosylceramide is accumulated in the lysosomes of macrophages, leading to the formation of foam cells or Gaucher cells. Gaucher cells infiltrate the liver, spleen, bone marrow and other organs, leading to complications such as anemia, thrombocytopenia and hepatosplenomegaly. Eliglustat reduces the production of glucosylceramide by inhibiting glucosylceramide synthase, a rate-limiting enzyme in the production of glycosphingolipids. This lowers the amount of glucosylceramide that is available in lysosomes, and balances the deficiency of acid β-glucosidase.

适应症

Eliglustat is a glucosylceramide synthase inhibitor indicated for the long-term treatment of type 1 Gaucher disease in adult patients who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test. CYP2D6 ultra-rapid metabolizers may not achieve adequate eliglustat concentrations to achieve a therapeutic effect. A specific dosage cannot be recommended for CYP2D6 indeterminate metabolizers.

• Gaucher Disease, Type 1