An Efficacy and Safety Study of Ivacaftor in Patients With Cystic Fibrosis and Two Splicing Mutations
试验速览
- 阶段
- 3 期
- 状态
- 已完成
- 入组人数
- 2
- 主要终点
- Forced Expiratory Volume
研究概览
简要总结
This postmarketing N of 2 study is designed to evaluate the efficacy and safety of open-label ivacaftor treatment in two sisters with cystic fibrosis and pancreatic sufficiency.
详细描述
The two sisters have a splicing mutation that is predicted to respond favorably to ivacaftor therapy. In addition to measurement of usual clinical outcomes (i.e. lung function, nutritional status), there is great interest on the impact on nontuberculous mycobacteria (NTM) airways infection.
Subjects will undergo sputum cultures at baseline and monthly during treatment, initially in the absence of anti-NTM therapy but with the intent to treat with antibiotics if there is persistence of the infection in cultures. Other clinical outcomes will include changes in sweat chloride, lung function and weight. Safety measures will include periodic assessment of liver enzymes. All serious and non-serious adverse events will be collected
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Subjects are >18 years of age and able to provide informed consent.
- •Subjects reside in the US and are willing to be treated with ivacaftor.
- •Subjects have the splicing mutation of interest.
- •Subjects are willing and able to perform requirements of the study.
排除标准
- •There are no relevant exclusion criteria for this n-of-2 study.
研究组 & 干预措施
Ivacaftor
There is only one arm to this study. The two sisters with Cystic Fibrosis will both receive Ivacaftor for 6 months for their treatment.
干预措施: Ivacaftor (Drug)
结局指标
主要结局
Forced Expiratory Volume
时间窗: 24 weeks
Absolute change in percent predicted in 1 second FEV1 from baseline through week 24
次要结局
- Sputum Results(24 weeks)
- Sweat Chloride(24 Weeks)