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.
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
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
2
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.
Forced Expiratory Volume
Absolute change in percent predicted in 1 second FEV1 from baseline through week 24
Time frame: 24 weeks
Sputum Results
Achievement of mycobacterial culture conversion (negative culture)
Time frame: 24 weeks
Sweat Chloride
Testing efficacy through gathering absolute change in sweat chloride from baseline through week 24
Time frame: 24 Weeks
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