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

• Sponsor: Medical University of South Carolina (Other)
• Overall Status: Completed
• CT.gov ID: NCT02934698
• Collaborator: Vertex Pharmaceuticals Incorporated (Industry)
• Enrollment: 2
• Arm: 1
• Actual Duration (Months): 17.9

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Cystic Fibrosis	Drug: Ivacaftor	Phase 3

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 Design

• Study Type: Interventional
• Actual Enrollment: 2 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Treatment
• Official Title: An Efficacy and Safety Study of Ivacaftor in Patients With Cystic Fibrosis and Two Splicing Mutations
• Actual Study Start Date: Nov 1, 2016
• Actual Primary Completion Date: May 1, 2018
• Actual Study Completion Date: May 1, 2018

Arms and Interventions

Arm	Intervention/Treatment
Experimental: 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.	Drug: 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.

Outcome Measures

Primary Outcome Measures

1. Forced Expiratory Volume [24 weeks]

   Absolute change in percent predicted in 1 second FEV1 from baseline through week 24

Secondary Outcome Measures

1. Sputum Results [24 weeks]

   Achievement of mycobacterial culture conversion (negative culture)

2. Sweat Chloride [24 Weeks]

   Testing efficacy through gathering absolute change in sweat chloride from baseline through week 24

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years and Older
• Sexes Eligible for Study: Female
• Accepts 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 exclusion criteria for this n-of-2 study.

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

• Medical University of South Carolina
• Vertex Pharmaceuticals Incorporated

Investigators

• Principal Investigator: Patrick A Flume, MD, Medical University of South Carolina

Study Documents (Full-Text)

• Study Protocol and Statistical Analysis Plan - Jun 22, 2015

More Information

Publications

None provided.

• Responsible Party: Medical University of South Carolina
• ClinicalTrials.gov Identifier: NCT02934698
• Other Study ID Numbers: Pro00052526
• First Posted: Oct 17, 2016
• Last Update Posted: Aug 6, 2018
• Last Verified: Jul 1, 2018

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Additional relevant MeSH terms: Cystic Fibrosis; Fibrosis; Ivacaftor

Study Results

Participant Flow

Arm/Group Title	Ivacaftor
Arm/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. 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.
Period Title: Overall Study
STARTED	2
COMPLETED	2
NOT COMPLETED	0

Baseline Characteristics

Arm/Group Title	Ivacaftor
Arm/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. 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.
Overall Participants	2
Age (years) [Mean (Full Range) ]
Mean (Full Range) [years]	37
Sex: Female, Male (Count of Participants)
Female	2 100%
Male	0 0%
Ethnicity (NIH/OMB) (Count of Participants)
Hispanic or Latino	0 0%
Not Hispanic or Latino	2 100%
Unknown or Not Reported	0 0%
Race (NIH/OMB) (Count of Participants)
American Indian or Alaska Native	0 0%
Asian	0 0%
Native Hawaiian or Other Pacific Islander	0 0%
Black or African American	0 0%
White	2 100%
More than one race	0 0%
Unknown or Not Reported	0 0%
Region of Enrollment (participants) [Number]
United States	2 100%

Outcome Measures

1. Primary Outcome

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

Outcome Measure Data

Analysis Population Description

[Not Specified]

Arm/Group Title	Ivacaftor
Arm/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. 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.
Measure Participants	2
Mean (Full Range) [percentage of predicted]	4

2. Secondary Outcome

Title	Sputum Results
Description	Achievement of mycobacterial culture conversion (negative culture)
Time Frame	24 weeks

Outcome Measure Data

Analysis Population Description

[Not Specified]

Arm/Group Title	Ivacaftor
Arm/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. 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.
Measure Participants	2
Count of Participants [Participants]	2 100%

3. Secondary Outcome

Title	Sweat Chloride
Description	Testing efficacy through gathering absolute change in sweat chloride from baseline through week 24
Time Frame	24 Weeks

Outcome Measure Data

Analysis Population Description

[Not Specified]

Arm/Group Title	Ivacaftor
Arm/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. 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.
Measure Participants	2
Mean (Full Range) [mmol/L]	-5.7

Adverse Events

Time Frame	24 weeks
Arm/Group Title	Ivacaftor
Arm/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. 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.
All Cause Mortality
	Ivacaftor
	Affected / at Risk (%)	# Events
Total	0/2 (0%)
Serious Adverse Events
	Ivacaftor
	Affected / at Risk (%)	# Events
Total	0/2 (0%)
Other (Not Including Serious) Adverse Events
	Ivacaftor
	Affected / at Risk (%)	# Events
Total	2/2 (100%)
Cardiac disorders
palpitations	1/2 (50%)	1
Infections and infestations
Sinus congestion	2/2 (100%)	4
Skin and subcutaneous tissue disorders
Folliculitis	1/2 (50%)	1

Limitations/Caveats

[Not Specified]

More Information

Certain Agreements

All Principal Investigators ARE employed by the organization sponsoring the study.

There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.