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Molecular Phenotypes for Cystic Fibrosis Lung Disease

This study is enrolling participants by invitation only.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of North Carolina, Chapel Hill Identifier:
First received: May 3, 2010
Last updated: June 6, 2016
Last verified: June 2016
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:

Estimated Enrollment: 200
Study Start Date: July 2009
Estimated Study Completion Date: April 2017
Estimated Primary Completion Date: April 2017 (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 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.


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
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
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 Identifier: NCT01116414     History of Changes
Other Study ID Numbers: 697
5R01HL095396 ( US NIH Grant/Contract Award Number )
Study First Received: May 3, 2010
Last Updated: June 6, 2016

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 processed this record on May 24, 2017