Detection of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Activity in Rectal Tissues From Human Subjects
This is a pilot study. The purpose of the study is to facilitate the development of a new biomarker of cystic fibrosis transmembrane conductance regulator (CFTR) function using rectal tissue.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Detection of Cystic Fibrosis Transmembrane Conductance Regulator CFTR) Activity in Rectal Tissues From Human Subjects|
- To develop and improve techniques to detect mature CFTR protein at the rectal cell membrane by performing rectal biopsies and ex-vivo Intestinal Current Measurement (ICM). [ Time Frame: 24 hours ] [ Designated as safety issue: No ]
- To estimate the range of detectable CFTR activity among human rectal tissue of subjects with and without cystic fibrosis. [ Time Frame: 24 hours ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||October 2009|
|Study Completion Date:||August 2010|
|Primary Completion Date:||July 2010 (Final data collection date for primary outcome measure)|
Rectal tissue obtained from study subjects without cystic fibrosis (CF) as part of scheduled colonoscopy/biopsies performed for clinical care
Rectal tissue obtained from study subjects with cystic fibrosis (CF) in one of three ways:
CF research has advanced to the point where small molecule agents have been developed to overcome the underlying genetic defects caused by CFTR mutations.
There is a critical need to develop new sensitive biomarkers of CFTR function and biochemistry that can be used in early phase clinical trials to demonstrate biologic effects of investigative agents in vivo. Intestinal Current Measurement (ICM) from rectal biopsy samples is an assay that has been proven to be sensitive and specific for CFTR function. This method and site of investigation is particularly attractive, since CFTR is expressed at high levels in the rectum, it is not altered by disease manifestations, and the tissue can be studied ex vivo, providing more flexibility in the nature of the techniques to detect and quantify CFTR activity.
This study will aid in the development of new biomarkers in human rectal tissue for use in CF clinical trials. Testing compounds that are designed to restore function to disease-causing CFTR genes and proteins will provide an opportunity to improve and standardize techniques in the acquisition and measurement of CFTR activity in rectal biopsy specimens.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01078740
|United States, Alabama|
|University of Alabama at Birmingham Hospital|
|Birmingham, Alabama, United States, 35249|
|United States, Iowa|
|University of Iowa Hospitals and Clinics|
|Iowa City, Iowa, United States, 52242|
|United States, North Carolina|
|University of North Carolina Hospitals|
|Chapel Hill, North Carolina, United States, 27514|
|Principal Investigator:||JP Clancy, MD||University of Alabama at Birmingham|