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Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation

Phase 3
Completed
Conditions
Cystic Fibrosis
Interventions
Drug: Placebo
Drug: Ivacaftor
Registration Number
NCT00909532
Lead Sponsor
Vertex Pharmaceuticals Incorporated
Brief Summary

The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 12 years and older who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ivacaftor is a potent and selective CFTR potentiator of wild-type, G551D, F508del, and R117H forms of human CFTR protein. Potentiators are pharmacological agents that increase the chloride ion transport properties of the channel in the presence of cyclic AMP-dependent protein kinase A (PKA) activation.

Detailed Description

This was a phase 3 study in subjects with cystic fibrosis (CF) age 12 years and older who have a G551D-CFTR mutation and percent predicted forced expiratory volumn in 1 second (FEV1) between 40% and 90%.

Based on in vitro studies and pharmacologic, pharmacokinetic (PK), and safety profiles, ivacaftor was selected for clinical development as a possible treatment for patients with CF. Patients with the G551D mutation were the targeted population for this study because ivacaftor is a potentiator of the gating function of the CFTR protein, and the most prevalent mutation with a gating defect in CF is the G551D mutation.

This study was designed to further evaluate the efficacy of ivacaftor in subjects with CF who have a G551D-CFTR gene mutation and to evaluate safety in this population over a longer period than previously studied.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
167
Inclusion Criteria
  • Confirmed diagnosis of cystic fibrosis (CF) and G551D mutation in at least 1 allele
  • Forced expiratory volume in 1 second (FEV1) of 40% to 90% (inclusive) of predicted normal for age, gender, and height at Screening.
  • No clinically significant abnormalities that would have interfered with the study assessments, as judged by the investigator
  • Willing to use highly effective birth control methods during the study
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Exclusion Criteria
  • History of any illness or condition that might confound the results of the study or pose an additional risk in administering study drug to the subject
  • Acute respiratory infection, pulmonary exacerbation, or changes in therapy for pulmonary disease within 4 weeks of Day 1 of the study
  • History of alcohol, medication or illicit drug abuse within one year prior to Day 1
  • Abnormal liver function ≥ 3x the upper limit of normal
  • Abnormal renal function at Screening
  • History of solid organ or hematological transplantation
  • Pregnant, planning a pregnancy, breast-feeding, or unwilling to follow contraception requirements
  • Ongoing participation in another therapeutic clinical study or prior participation in an investigational drug study within 30 days prior to Screening
  • Use of inhaled hypertonic saline treatment
  • Concomitant use of any inhibitors or inducers of cytochrome P450 3A4 (CYP 3A4)
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Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
PlaceboPlaceboSubjects who received placebo every 12 hours (q12h) for up to 48 weeks.
150 mg Ivacaftor q12hIvacaftorSubjects who received 150 mg of ivacaftor q12h for up to 48 weeks.
Primary Outcome Measures
NameTimeMethod
Absolute Mean Change From Baseline in Percent Predicted Forced Expiratory Volume in 1 Second (FEV1) Through Week 24baseline through 24 weeks

Spirometry (as measured by FEV1) is a standardized assessment to evaluate lung function that is the most widely used endpoint in cystic fibrosis studies.

Secondary Outcome Measures
NameTimeMethod
Absolute Mean Change From Baseline in Percent Predicted FEV1 Through Week 48baseline through 48 weeks

Spirometry (as measured by FEV1) is a standardized assessment to evaluate lung function that is the most widely used endpoint in cystic fibrosis studies.

Absolute Change From Baseline in Cystic Fibrosis Questionnaire-Revised (CFQ-R) Score Through Week 24 and Week 48 (Respiratory Domain Score, Pooled)baseline through 24 weeks and 48 weeks

The CFQ-R is a health-related quality of life measure for subjects with cystic fibrosis. Each domain is scored from 0 (worst) to 100 (best). A difference of at least 4 points in the respiratory domain score of the CFQ-R is considered a minimal clinically important difference (MCID).

Absolute Change From Baseline in Sweat Chloride Concentration Through Week 24 and Week 48baseline through 24 weeks and 48 weeks

The sweat chloride (quantitative pilocarpine iontophoresis) test is a standard diagnostic tool for cystic fibrosis (CF), serving as an indicator of cystic fibrosis transmembrane conductance regulator (CFTR) activity.

Time-to-first Pulmonary Exacerbation Through Week 24 and Week 48baseline through 24 weeks and 48 weeks

Pulmonary exacerbation was defined as a change in antibiotic therapy (intravenous, inhaled, or oral) for any 4 or more of signs/symptoms such as change in sputum; new or increased hemoptysis; increased cough or dyspnea; malaise, fatigue, or lethargy; temperature above 38 degrees C; anorexia or weight loss; sinus pain/tenderness and discharge; change in physical examination of the chest; decreased pulmonary function by 10%; and radiographic changes indicative of pulmonary infection.

Absolute Change From Baseline in Weight at Week 24 and Week 48baseline to 24 weeks and 48 weeks

As malnutrition is common in patients with cystic fibrosis (CF) because of increased energy expenditures due to lung disease and fat malabsorption, body weight is an important clinical measure of nutritional status.

Trial Locations

Locations (65)

Johns Hopkins University

🇺🇸

Baltimore, Maryland, United States

Children's Hospital of Philadelphia

🇺🇸

Philadelphia, Pennsylvania, United States

Royal Children's Hospital Brisbane

🇦🇺

Herston, Queensland, Australia

Rady Children's Hospital

🇺🇸

San Diego, California, United States

Seattle Children's Hospital

🇺🇸

Seattle, Washington, United States

Princess Margaret Hospital for Children

🇦🇺

Subiaco, Western Australia, Australia

Nationwide Children's Hospital

🇺🇸

Columbus, Ohio, United States

FN Motol

🇨🇿

Prague, Czech Republic

West Virginia University

🇺🇸

Morgantown, West Virginia, United States

University of Virginia

🇺🇸

Charlottesville, Virginia, United States

Queen Elizabeth II Health Sciences Centre

🇨🇦

Halifax, Nova Scotia, Canada

National Jewish Medical and Research Center

🇺🇸

Denver, Colorado, United States

University of Alabama

🇺🇸

Birmingham, Alabama, United States

Oregon Health & Sciences University

🇺🇸

Portland, Oregon, United States

Pulmonary, Allergy & Critical Care Medicine, University of Minnesota

🇺🇸

Minneapolis, Minnesota, United States

Adult Pulmonary/ CF, University of Nebraska Medical Center

🇺🇸

Omaha, Nebraska, United States

Vanderbilt University Medical Center

🇺🇸

Nashville, Tennessee, United States

University of Utah

🇺🇸

Salt Lake City, Utah, United States

Medical College of Wisconsin

🇺🇸

Milwaukee, Wisconsin, United States

Kaiser Permanente Medical Care Program

🇺🇸

Oakland, California, United States

Emory Cystic Fibrosis Center

🇺🇸

Atlanta, Georgia, United States

Children's Memorial Hospital

🇺🇸

Chicago, Illinois, United States

Washington University

🇺🇸

St. Louis, Missouri, United States

Indiana University

🇺🇸

Indianapolis, Indiana, United States

Children's Hospital Boston

🇺🇸

Boston, Massachusetts, United States

SUNY Upstate Medical University

🇺🇸

Syracuse, New York, United States

Cincinnati Children's Hospital Medical Center

🇺🇸

Cincinnati, Ohio, United States

The Children's Hospital Westmead

🇦🇺

Westmead, New South Wales, Australia

Royal Children's Hospital Melbourne

🇦🇺

Parkville, Victoria, Australia

Women and Children's Hospital of Buffalo

🇺🇸

Buffalo, New York, United States

University of Iowa

🇺🇸

Iowa City, Iowa, United States

St. Luke's CF Clinic

🇺🇸

Boise, Idaho, United States

Cystic Fibrosis Research Office, Stanford University

🇺🇸

Palo Alto, California, United States

Massachusetts General Hospital

🇺🇸

Boston, Massachusetts, United States

Long Island Jewish Medical Center

🇺🇸

New Hyde Park, New York, United States

Hopital Necker

🇫🇷

Paris, France

Pediatric & Pulmonary Division, Rainbow Babies/Case Western

🇺🇸

Cleveland, Ohio, United States

Toledo Children's Hospital

🇺🇸

Toledo, Ohio, United States

Hershey Medical Center

🇺🇸

Hershey, Pennsylvania, United States

East Tennessee Children's Hospital

🇺🇸

Knoxville, Tennessee, United States

Children's Hospital of Pittsburgh of UPMC

🇺🇸

Pittsburgh, Pennsylvania, United States

Division of Pulmonary and CCM, University of Washington

🇺🇸

Seattle, Washington, United States

The Prince Charles Hospital

🇦🇺

Chermside, Queensland, Australia

Mater Adult Hospital

🇦🇺

South Brisbane, Queensland, Australia

Lung Institute of Western Australia

🇦🇺

Nedlands, Western Australia, Australia

St. Michael's Hospital

🇨🇦

Toronto, Ontario, Canada

Montreal Children's Hospital - MUHC

🇨🇦

Montreal, Quebec, Canada

CF Center, Hospital for Sick Children

🇨🇦

Toronto, Ontario, Canada

Hopital Cochin

🇫🇷

Paris, France

Kinder- und Jugendklinik Universitätsklinikum Erlangen

🇩🇪

Erlangen, Germany

Centre de Perharidy

🇫🇷

Roscoff, France

Mukoviszidose-Zentrum am Klinikum der Friedrich-Schiller-Universität Jena, Klinik für Kinder- und Jugendmedizin

🇩🇪

Jena, Germany

Universitäts-Kinderklinik Würzburg

🇩🇪

Wurzburg, Germany

Klinikum der LMU München, Dr. von Haunersches Kinderspital (CHA)

🇩🇪

Munich, Germany

Our Lady's Children's Hospital

🇮🇪

Dublin, Ireland

The National Children's Hospital

🇮🇪

Dublin, Ireland

Cork University Hospital

🇮🇪

Cork, Ireland

St. Vincent's University Hospital

🇮🇪

Dublin, Ireland

Beaumont Hospital

🇮🇪

Dublin, Ireland

Belfast City Hospital

🇬🇧

Belfast, Northern Ireland, United Kingdom

Imperial College London

🇬🇧

London, United Kingdom

University of North Carolina at Chapel Hill

🇺🇸

Chapel Hill, North Carolina, United States

The Children's Mercy Hospital

🇺🇸

Kansas City, Missouri, United States

University of Michigan

🇺🇸

Ann Arbor, Michigan, United States

Monmouth Medical Center

🇺🇸

Long Branch, New Jersey, United States

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