Molecular Phenotypes for Cystic Fibrosis Lung Disease

Sponsor

University of North Carolina, Chapel Hill (Other)

Overall Status

Enrolling by invitation

CT.gov ID

NCT01116414

Collaborator

National Heart, Lung, and Blood Institute (NHLBI) (NIH)

200

Enrollment

Locations

161

Duration (Months)

66.7

Patients Per Site

0.4

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this study is to develop an integrated view of molecular mechanisms underlying CF lung disease severity.

Condition or Disease	Intervention/Treatment	Phase
Cystic Fibrosis Lung Diseases

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 Design

Study Type:

Observational

Anticipated Enrollment :

200 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Molecular Phenotypes for Cystic Fibrosis Lung Disease

Study Start Date :

Jul 1, 2009

Anticipated Primary Completion Date :

Dec 1, 2022

Anticipated Study Completion Date :

Dec 1, 2022

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

15 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Johns Hopkins University	Baltimore	Maryland	United States	21205
2	The University of North Carolina at Chapel Hill	Chapel Hill	North Carolina	United States	27599
3	Case Western Reserve University	Cleveland	Ohio	United States	44106