An Efficacy and Safety Study of Ivacaftor in Patients With Cystic Fibrosis and Two Splicing Mutations

Study Overview
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Brief Summary
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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.

Detailed Description
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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

Official Title
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An Efficacy and Safety Study of Ivacaftor in Patients With Cystic Fibrosis and Two Splicing Mutations

Conditions
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Cystic Fibrosis

Intervention / Treatment
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* Drug: Ivacaftor


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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. Exclusion Criteria: There are no relevant exclusion criteria for this n-of-2 study.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Ivacaftor<br>There is only one arm to this study. The two sisters with Cystic Fibrosis will both receive Ivacaftor for 6 months for their treatment. | Drug: Ivacaftor<br>* Subjects will be treated with ivacaftor for 6 months and followed for 7 months and will undergo assessments along the way to measure sweat chloride and sputum amounts.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Forced Expiratory Volume | Absolute change in percent predicted in 1 second FEV1 from baseline through week 24 | 24 weeks | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sputum Results | Achievement of mycobacterial culture conversion (negative culture) | 24 weeks | 
| Sweat Chloride | Testing efficacy through gathering absolute change in sweat chloride from baseline through week 24 | 24 Weeks |