Molecular Phenotypes for Cystic Fibrosis Lung Disease

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
University of North Carolina, Chapel Hill Identifier:
First received: May 3, 2010
Last updated: January 16, 2014
Last verified: January 2014

The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.

Cystic Fibrosis
Lung Diseases

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Molecular Phenotypes for Cystic Fibrosis Lung Disease

Resource links provided by NLM:

Further study details as provided by University of North Carolina, Chapel Hill:

Primary Outcome Measures:
  • This is not an interventional study [ Time Frame: This is not an interventional study ] [ Designated as safety issue: No ]
    Not applicable. This is not an interventional study.

Estimated Enrollment: 200
Study Start Date: July 2009
Estimated Study Completion Date: April 2015
Estimated Primary Completion Date: April 2014 (Final data collection date for primary outcome measure)
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 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.


Ages Eligible for Study:   15 Years and older
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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
Principal Investigator: Michael R Knowles, MD University of North Carolina
  More Information

Responsible Party: University of North Carolina, Chapel Hill Identifier: NCT01116414     History of Changes
Other Study ID Numbers: 697, 5R01HL095396
Study First Received: May 3, 2010
Last Updated: January 16, 2014
Health Authority: United States: Federal Government
United States: Institutional Review Board

Additional relevant MeSH terms:
Cystic Fibrosis
Lung Diseases
Pulmonary Fibrosis
Digestive System Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Pancreatic Diseases
Pathologic Processes
Respiratory Tract Diseases processed this record on October 23, 2014