Detection of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Activity in Rectal Tissues From Human Subjects

Detection of Cystic Fibrosis Transmembrane Conductance Regulator CFTR) Activity in Rectal Tissues From Human Subjects

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01078740

Enrollment

Registered

2010-03-02

Start date

2009-10-31

Completion date

2010-08-31

Last updated

2013-03-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cystic Fibrosis

Keywords

cystic fibrosis, cystic fibrosis transmembrane conductance regulator, biomarkers, Intestinal Current Measurement

Brief summary

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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 75 Years

Healthy volunteers

Yes

Inclusion criteria

1. Non-CF subjects Inclusion Criteria: * Male or female 18-75 years of age at enrollment * Undergoing colonoscopy for clinical care * Written informed consent obtained from subject or subject's legal representative and ability for subject to comply with the requirements of the study

Exclusion criteria

* Any medical condition or laboratory values that in the opinion of the onsite principal investigator and/or collaborating gastroenterologist may place the subject at significant risk by undergoing the additional research related biopsies * Subjects with a history of radiation therapy to the rectum, prostate and/or pelvic area 2. CF subjects undergoing a surgical procedure for clinical care Inclusion Criteria: * Confirmed diagnosis of CF based on the following criteria: ∆F508 homozygous * Male or female 18 years of age or greater at enrollment * Patient undergoing planned colonoscopy or other surgical procedure and agrees to undergo sigmoidoscopy and biopsy * Written informed consent obtained from subject or subject's legal representative and ability for subject to comply with the requirements of the study

Design outcomes

Primary

Measure	Time frame
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).	24 hours

Secondary

Measure	Time frame
To estimate the range of detectable CFTR activity among human rectal tissue of subjects with and without cystic fibrosis.	24 hours

Countries

United States

Outcome results