Vertex公司日前宣布，FDA批准一项其Kalydeco（ivacaftor）一项补充新药申请，用于年龄6岁或以上、在囊性纤维化跨膜电导调节基因中其余8种之一有突变的囊性纤维化（CF）患者。

Kalydeco最早在2012年1月获准用于年龄6岁或以上、至少有一个拷贝G551D突变的CF患者。由于这项补充申请的获准，Kalydeco现在可用于有下列9种突变的CF患者：G551D、G178R、S549N、S549R、G551S、G1244E、S1251N、S1255P和G1349D。在美国，目前大约有150名6岁及以上年龄段、有其余8种之一突变基因的CF患者，Kalydeco正是适应了他们的治疗需要。

　Kalydeco是一种化学合成药（150mg口服片剂），由Vertex制药公司和CF共同开发。它是世界上最昂贵的药品之一，每年治疗费高达30万美元/年，备受批评质疑。

KalydecoIvacaftorcystic fibrosisG551D mutation

FDA Approves Vertex's Kalydeco in Cystic Fibrosis Patients with Eight Additional Mutations

The FDA first approved Kalydeco in late 2012 for cystic fibrosis patients six and older who have at least one copy of the G551D mutation. In addition to this mutation, the drug is now approved for cystic fibrosis patients who have the G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D mutations.

In the US, there are 30,000 people with cystic fibrosis. Approximately 4 percent of cystic fibrosis patients harbor the G551D mutation. Vertex estimates that 150 people ages six and older have one of the additional eight mutations that Kalydeco is now indicated to treat.

Mutations in the CFTR gene result in defective or missing proteins that cause cystic fibrosis, a disease that is characterized by a buildup of sticky mucus that becomes infected and hinders breathing. Kalydeco helps normalize CFTR protein function in people harboring the G551D and these other eight mutations.

The FDA granted Vertex Breakthrough Therapy designation for Kalydeco in late 2012. As part of the latest supplementary NDA, the company submitted data from a two-part, randomized, Phase III, cross-over trial involving 39 cystic fibrosis patients who had one of nine mutations: G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, G1349D or G970R.

Vertex showed in this study that Kalydeco treatment significantly improved lung function (FEV1) in patients and adverse events associated with the drug in these patients were similar to how patients with the G551D mutation reacted to the drug in earlier studies.

"Based on data from four patients with the G970R mutation enrolled in the study, the efficacy of Kalydeco in patients with the G970R mutation could not be established to support approval in the U.S," the company said. Worldwide, Vertex estimated that less than a dozen cystic fibrosis patients have the G970R mutation, including two patients in the US.

Vertex has submitted data from the same study to expand Kalydeco's indication in Europe, Canada, and Australia. The company estimates that in Europe and Australia an additional 250 cystic fibrosis patients have these eight other mutations.

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