Molecular Phenotypes for Cystic Fibrosis Lung Disease
The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Molecular Phenotypes for Cystic Fibrosis Lung Disease|
- 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.
|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)|
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.
Please refer to this study by its ClinicalTrials.gov 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|
|The Hospital for Sick Children|
|Toronto, Ontario, Canada, M5G 1X8|
|Principal Investigator:||Michael R Knowles, MD||University of North Carolina|