Nasal Potential Difference (NPD) Testing: Evaluation of CFTR Function in Children With Primary Sclerosing Cholangitis (PSC)

This study has been terminated.
Sponsor:
Collaborator:
Children's Hospital Boston
Information provided by:
Beth Israel Deaconess Medical Center
ClinicalTrials.gov Identifier:
NCT00179439
First received: September 12, 2005
Last updated: May 9, 2008
Last verified: May 2008
  Purpose

The investigators hypothesize that PSC in children is associated with mutations and functional changes of the cystic fibrosis (CF) gene.


Condition Intervention
Primary Sclerosing Cholangitis
Inflammatory Bowel Disease
Procedure: nasal potential difference testing

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Nasal Potential Difference Testing: Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Function in Children With Primary Sclerosing Cholangitis (PSC)

Resource links provided by NLM:


Further study details as provided by Beth Israel Deaconess Medical Center:

Primary Outcome Measures:
  • CFTR DNA analysis

Secondary Outcome Measures:
  • Nasal potential difference testing
  • Sweat test

Estimated Enrollment: 50
Detailed Description:

The purpose of this protocol is to perform Nasal Transepithelial Potential Difference (NTPD) testing to assess the function of the cystic fibrosis gene product, a chloride channel referred to as CFTR, in patients diagnosed with PSC and/or inflammatory bowel disease in childhood and currently 12 years of age and greater.

Dr. Freedman's laboratory has shown that there is an increased prevalence of CFTR abnormalities in adults with PSC as demonstrated by genotype and phenotype analysis. We hypothesize that abnormalities in CFTR based on exhaustive genotype and phenotype assessments are associated with the presence of PSC in children. We would like to enroll patients with inflammatory bowel disease and no PSC to use as a "control group".

Subjects with PSC and/or inflammatory bowel disease diagnosed in childhood, currently aged 12 years and above, will be enrolled in study protocols at Children's Hospital in Boston, which will have received their local IRB approval. The only role for BIDMC will be to perform NTPD testing on these subjects. No other assessment or testing will be performed at our site. We will not be involved in any other aspect of care for these subjects.

  Eligibility

Ages Eligible for Study:   12 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • 12 years of age and older
  • Must have diagnosis of primary sclerosing cholangitis and/or inflammatory bowel disease
  • Absence of other liver disease, such as viral hepatitis, drug-induced liver disease, and metabolic/hereditary liver disease
  • No exclusion based on sex, race, and ethnic background
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00179439

Locations
United States, Massachusetts
Beth Israel Deaconess Medical Center
Boston, Massachusetts, United States, 02215
Sponsors and Collaborators
Beth Israel Deaconess Medical Center
Children's Hospital Boston
Investigators
Study Director: Harpreet Pall, MD Children's Hospital Boston
Principal Investigator: Steven D Freedman, MD, PhD Beth Israel Deaconess Medical Center
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00179439     History of Changes
Other Study ID Numbers: 2004P-000316, 02820-4
Study First Received: September 12, 2005
Last Updated: May 9, 2008
Health Authority: United States: Institutional Review Board

Keywords provided by Beth Israel Deaconess Medical Center:
PSC
IBD
CFTR

Additional relevant MeSH terms:
Cholangitis
Cholangitis, Sclerosing
Inflammatory Bowel Diseases
Intestinal Diseases
Bile Duct Diseases
Biliary Tract Diseases
Digestive System Diseases
Gastroenteritis
Gastrointestinal Diseases

ClinicalTrials.gov processed this record on April 17, 2014