Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
152 participants
OBSERVATIONAL
2009-07-31
2023-10-25
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* Participation in Genetic Modifiers of CF Lung Disease study (NCT00037765)
Exclusion Criteria
* Fully anticoagulated or clotting abnormalities
* Large nosebleed in the last 2 months
* Acutely ill
15 Years
ALL
No
Sponsors
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National Heart, Lung, and Blood Institute (NHLBI)
NIH
University of North Carolina, Chapel Hill
OTHER
Responsible Party
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Principal Investigators
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Michael Knowles, MD
Role: PRINCIPAL_INVESTIGATOR
University of North Carollina at Chapel Hill
Locations
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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
Countries
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References
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Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR; Gene Modifier Study Group. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med. 2005 Oct 6;353(14):1443-53. doi: 10.1056/NEJMoa051469.
O'Neal WK, Gallins P, Pace RG, Dang H, Wolf WE, Jones LC, Guo X, Zhou YH, Madar V, Huang J, Liang L, Moffatt MF, Cutting GR, Drumm ML, Rommens JM, Strug LJ, Sun W, Stonebraker JR, Wright FA, Knowles MR. Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes. Am J Hum Genet. 2015 Feb 5;96(2):318-28. doi: 10.1016/j.ajhg.2014.12.022. Epub 2015 Jan 29.
Polineni D, Dang H, Gallins PJ, Jones LC, Pace RG, Stonebraker JR, Commander LA, Krenicky JE, Zhou YH, Corvol H, Cutting GR, Drumm ML, Strug LJ, Boyle MP, Durie PR, Chmiel JF, Zou F, Wright FA, O'Neal WK, Knowles MR. Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity. Am J Respir Crit Care Med. 2018 Jan 1;197(1):79-93. doi: 10.1164/rccm.201701-0134OC.
Dang H, Polineni D, Pace RG, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, O'Neal WK, Knowles MR. Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation. PLoS One. 2020 Nov 30;15(11):e0239189. doi: 10.1371/journal.pone.0239189. eCollection 2020.
Other Identifiers
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697
Identifier Type: OTHER
Identifier Source: secondary_id
08-1509
Identifier Type: -
Identifier Source: org_study_id
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