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

Medical University of South Carolina (MUSC)

Status and phase: Completed; Phase 3

Conditions: Cystic Fibrosis

Treatments: Drug: Ivacaftor

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT02934698

Pro00052526

Details and patient eligibility

About

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.

Full 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

Enrollment: 2 patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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2 participants in 1 patient group

Ivacaftor

Experimental group

Description:

There is only one arm to this study. The two sisters with Cystic Fibrosis will both receive Ivacaftor for 6 months for their treatment.

Treatment:

Drug: Ivacaftor