Molecular Phenotypes for Cystic Fibrosis Lung Disease
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Purpose
The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.
| Condition |
|---|
|
Cystic Fibrosis Lung Diseases |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| Official Title: | Molecular Phenotypes for Cystic Fibrosis Lung Disease |
| Estimated Enrollment: | 200 |
| Study Start Date: | July 2009 |
| Estimated Study Completion Date: | December 2012 |
| Estimated Primary Completion Date: | December 2012 (Final data collection date for primary outcome measure) |
BACKGROUND:
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 ΔF508 homozygotes.
DESIGN NARRATIVE:
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 ΔF508 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.
Eligibility| Ages Eligible for Study: | 15 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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| 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 | |
| Principal Investigator: | Michael R Knowles, MD | University of North Carolina |
More Information
Publications:
| Responsible Party: | University of North Carolina, Chapel Hill |
| ClinicalTrials.gov Identifier: | NCT01116414 History of Changes |
| Other Study ID Numbers: | 697, 5R01HL095396 |
| Study First Received: | May 3, 2010 |
| Last Updated: | October 9, 2012 |
| Health Authority: | United States: Federal Government United States: Institutional Review Board |
Additional relevant MeSH terms:
|
Cystic Fibrosis Fibrosis Lung Diseases Pulmonary Fibrosis Pancreatic Diseases |
Digestive System Diseases Respiratory Tract Diseases Genetic Diseases, Inborn Infant, Newborn, Diseases Pathologic Processes |
ClinicalTrials.gov processed this record on May 16, 2013