Molecular Phenotypes for Cystic Fibrosis Lung Disease

Completed

• Conditions: Lung Diseases; Cystic Fibrosis

• Registration Number: NCT01116414
• Lead Sponsor: University of North Carolina, Chapel Hill

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.

Study Timeline

• Study Start: 2009-07
• Study First Submitted: 2010-05-03
• Study First Submitted QC: 2010-05-03
• Study First Posted: 2010-05-05
• Primary Completion: 2011-12-13
• Status Verified: 2023-10
• Study Completion: 2023-10-25
• Last Update Submitted: 2023-10-26
• Last Update Posted: 2023-10-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 152

Inclusion Criteria

• Diagnosed with CF
• Participation in Genetic Modifiers of CF Lung Disease study (NCT00037765)

Read More

Exclusion Criteria

• History of lung transplant
• Fully anticoagulated or clotting abnormalities
• Large nosebleed in the last 2 months
• Acutely ill

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (3)

Johns Hopkins University; 🇺🇸 Baltimore, Maryland, United States

The University of North Carolina at Chapel Hill; 🇺🇸 Chapel Hill, North Carolina, United States

Case Western Reserve University; 🇺🇸 Cleveland, Ohio, United States