An Open Label N of 1 Study to Evaluate the Study and Efficacy of Long-Term Treatment With Ivacaftor in Combination With Ataluren (PTC124) in Subjects With Nonsense Mutation Cystic Fibrosis
试验速览
- 阶段
- 4 期
- 状态
- 已完成
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- FEV1 as a Measure of Lung Function
研究概览
简要总结
The purpose of this study is to explore the combination of ataluren and ivacaftor as a treatment for patients with nonsense mutation cystic fibrosis
详细描述
Cystic Fibrosis (CF) is a life threatening genetic disorder resulting from mutations found in the CF gene known as the cystic fibrosis transmembrane conductance regulator or CFTR. This defect prevents correct chloride absorption in and out of the cells The purpose of this study is to explore the combination of ataluren and ivacaftor as a treatment for patients with a specific cystic fibrosis mutation
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
- 6 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Evidence of signed and dated informed consent/assent document(s) indicating that the subject (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
- •Age ≥6 years
- •Body weight ≥16 kg
- •Diagnosis of cystic fibrosis and documentation of the presence of a nonsense mutations of the CFTR gene, as determined by historical genotyping
- •Ability to perform a valid, reproducible spirometry with demonstration of a forced expiratory volume in 1second (FEV1) ≥30% and ≤90% of predicted for age, gender, and height.
- •If the subject is sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration
- •Willingness and ability to comply with all study procedures and assessments.
- •Currently being administered ivacaftor, either alone (Kalydeco) or in combination with lumacaftor (Orkambi)
排除标准
- •Any change (initiation, change in type of drug, dose modification, schedule modification, interruption, discontinuation, or re-initiation) in a chronic treatment/prophylaxis regimen for CF or for CF-related conditions within 2 weeks prior to screening.
- •Ongoing participation in any other therapeutic clinical trial.
- •Evidence of pulmonary exacerbation or acute upper or lower respiratory tract infection (including viral illnesses) within 2 weeks prior to screening.
- •Ongoing inhaled tobramycin therapy.
- •Ongoing immunosuppressive therapy (other than corticosteroids up to 10mg/d equivalent of prednisone)
- •Ongoing warfarin, phenytoin, or tolbutamide therapy.
- •History of solid organ or hematological transplantation.
- •A history of positive hepatitis B surface antigen test, hepatitis C antibody test, or human immunodeficiency
- •Major complications of lung disease (including massive hemoptysis, pneumothorax, or pleural effusion) within 4 weeks prior to screening.
- •Pregnancy or breast-feeding.
- •Current smoker or a smoking history of ≥10 pack-years (number of cigarette packs/day × number of years smoked).
- •Prior or ongoing medical condition (eg, renal failure, alcoholism, drug abuse, psychiatric condition), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
研究组 & 干预措施
ataluren administration
dose of the drug administered (mg/kg body weight)
干预措施: Ataluren (Drug)
结局指标
主要结局
FEV1 as a Measure of Lung Function
时间窗: 1 year
effect of ataluren on lung function as assessed by spirometry and measured by percentage of Liters (minimum value would be .0% Liters and maximum value of liters is dependent from person to person). The higher the value the better the outcome. The measure will include the change from baseline to one year to report a change between the two measurement points
次要结局
未报告次要终点
研究者
Steven M Rowe
Principal Investigator
University of Alabama at Birmingham