Cystic Fibrosis
Conditions
Brief summary
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
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
Interventions
DRUGIvacaftor
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.
Sponsors
Vertex Pharmaceuticals Incorporated
Medical University of South Carolina
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Forced Expiratory Volume | 24 weeks | Absolute change in percent predicted in 1 second FEV1 from baseline through week 24 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Sputum Results | 24 weeks | Achievement of mycobacterial culture conversion (negative culture) |
| Sweat Chloride | 24 Weeks | Testing efficacy through gathering absolute change in sweat chloride from baseline through week 24 |
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| 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.
Ivacaftor: 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. | 2 |
| Total | 2 |
Baseline characteristics
| Characteristic | Ivacaftor |
|---|---|
| Age, Continuous | 37 years |
| Ethnicity (NIH/OMB) Hispanic or Latino | 0 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 2 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) White | 2 Participants |
| Region of Enrollment United States | 2 participants |
| Sex: Female, Male Female | 2 Participants |
| Sex: Female, Male Male | 0 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 2 |
| other Total, other adverse events | 2 / 2 |
| serious Total, serious adverse events | 0 / 2 |
Outcome results
Primary
Forced Expiratory Volume
Absolute change in percent predicted in 1 second FEV1 from baseline through week 24
Time frame: 24 weeks
| Arm | Measure | Value (MEAN) |
|---|---|---|
| Ivacaftor | Forced Expiratory Volume | 4 percentage of predicted |
Secondary
Sputum Results
Achievement of mycobacterial culture conversion (negative culture)
Time frame: 24 weeks
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| Ivacaftor | Sputum Results | 2 Participants |
Secondary
Sweat Chloride
Testing efficacy through gathering absolute change in sweat chloride from baseline through week 24
Time frame: 24 Weeks
| Arm | Measure | Value (MEAN) |
|---|---|---|
| Ivacaftor | Sweat Chloride | -5.7 mmol/L |