2014年8月,美国FDA批准Cerdelga(eliglustat)治疗1型戈谢病。戈谢病是一种罕见的遗传性疾病,由于缺乏葡糖脑苷脂酶而引起脂肪在脾脏、肝脏及骨髓聚积,主要特征包括肝脏及脾脏肿大和贫血。本品通过抑制脂肪形成的代谢过程而减少脂肪的产生。此外,本品还获得FDA罕用药资格。两项199例1型戈谢病患者参与的临床研究评价了本品的安全性及有效性。在一项随机、双盲、安慰剂对照、多中心临床研究中,40例之前未接受过酶替代治疗的1型戈谢病受试者以初始剂量42 mg接受治疗, In August 2014, the U.S. FDA approved Cerdelga (eliglustat) for the treatment of Gaucher disease type 1. Gaucher disease is a rare genetic disorder that causes accumulation of fat in the spleen, liver and bone marrow due to the lack of glucocerebrosidase. The main features include enlarged liver and spleen and anemia. This product by reducing the metabolic process of fat formation and reduce fat production. In addition, this product also received FDA rare drug eligibility. Two 199 cases of type 1 Gaucher disease involved in the clinical study to evaluate the safety and efficacy of this product. In a randomized, double-blind, placebo-controlled, multicentre clinical study, 40 patients with Type 1 Gaucher disease who had previously received no enzyme replacement therapy were treated at an initial dose of 42 mg,