Cystic Fibrosis, Lung Diseases
Conditions
Brief summary
The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.
Detailed description
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 deltaF508 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 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.
Interventions
None listed
Sponsors
National Heart, Lung, and Blood Institute (NHLBI)
University of North Carolina, Chapel Hill
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
15 Years to No maximum
Healthy volunteers
No
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
Countries
United States
Outcome results
None listed