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

Phase 3

Completed

• Conditions: Cystic Fibrosis
• Interventions: Drug: Ivacaftor

• Registration Number: NCT02934698
• Lead Sponsor: Medical University of South Carolina

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

Study Timeline

• Study First Submitted: 2016-10-13
• Study First Submitted QC: 2016-10-14
• Study First Posted: 2016-10-17
• Study Start: 2016-11-01
• Primary Completion: 2018-05
• Study Completion: 2018-05
• Status Verified: 2018-07
• Results First Submitted: 2018-07-10
• Results First Submitted QC: 2018-07-10
• Last Update Submitted: 2018-07-10
• Results First Posted: 2018-08-06
• Last Update Posted: 2018-08-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 2

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Ivacaftor	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.

Primary Outcome Measures

Name	Time	Method
Forced Expiratory Volume	24 weeks	Absolute change in percent predicted in 1 second FEV1 from baseline through week 24

Secondary Outcome Measures

Name	Time	Method
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