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Molecular Phenotypes for Cystic Fibrosis Lung Disease

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ClinicalTrials.gov Identifier: NCT01116414
Recruitment Status : Enrolling by invitation
First Posted : May 5, 2010
Last Update Posted : August 31, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:
The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.

Condition or disease
Cystic Fibrosis Lung Diseases

Detailed Description:


Cystic fibrosis (CF) is a recessive genetic disorder caused by mutations in CF transmembrane conductance regulator (CFTR) gene. CF has multi-organ involvement, but respiratory disease is the major cause of morbidity and mortality. The median age of survival in CF is only 37 years, but there is a broad range of disease severity in the lung, even among patients with identical CFTR genotypes, including deltaF508 homozygotes.


This project holds great promise for defining a robust molecular phenotype for CF lung disease, which relates to prognosis, and new targets for therapy. By using a large and well-defined population of deltaF508 homozygotes who also have whole genome single nucleotide polymorphism (SNP) data, and by studying gene expression across the whole transcriptome in a large number of samples of two relevant tissues (respiratory epithelium and transformed lymphocytes), we will be uniquely positioned to develop an integrated view of molecular mechanisms underlying CF lung disease severity.

Study Design

Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Molecular Phenotypes for Cystic Fibrosis Lung Disease
Study Start Date : July 2009
Estimated Primary Completion Date : April 2018
Estimated Study Completion Date : April 2018

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   15 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
CF patients who have the same CFTR genetic background, i.e., homozygous deltaF508, and who are at the extremes of pulmonary phenotype, i.e., the most severe and mildest lung disease.

Inclusion Criteria:

  • Diagnosed with CF
  • Participation in Genetic Modifiers of CF Lung Disease study (NCT00037765)

Exclusion Criteria:

  • History of lung transplant
  • Fully anticoagulated or clotting abnormalities
  • Large nosebleed in the last 2 months
  • Acutely ill
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01116414

United States, Maryland
Johns Hopkins University
Baltimore, Maryland, United States, 21205
United States, North Carolina
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599
United States, Ohio
Case Western Reserve University
Cleveland, Ohio, United States, 44106
Canada, Ontario
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 1X8
Sponsors and Collaborators
University of North Carolina, Chapel Hill
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Michael R Knowles, MD University of North Carolina
More Information

Responsible Party: University of North Carolina, Chapel Hill
ClinicalTrials.gov Identifier: NCT01116414     History of Changes
Other Study ID Numbers: 697
5R01HL095396 ( U.S. NIH Grant/Contract )
First Posted: May 5, 2010    Key Record Dates
Last Update Posted: August 31, 2017
Last Verified: August 2017

Additional relevant MeSH terms:
Cystic Fibrosis
Lung Diseases
Pulmonary Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases