NPDT Evaluation in Children With CFTR and (PSC) (NPD)

December 11, 2017 updated by: Steven Freedman, Beth Israel Deaconess Medical Center

Nasal Potential Difference Testing: Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Function in Children With Primary Sclerosing Cholangitis (PSC)

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

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Anticipated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02215
        • Beth Israel Deaconess Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

12 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure
CFTR DNA analysis

Secondary Outcome Measures

Outcome Measure
Nasal potential difference testing
Sweat test

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Beth Israel Deaconess Medical Center

Collaborators

Boston Children's Hospital

Investigators

  • Study Director: Harpreet Pall, MD, Boston Children's Hospital
  • Principal Investigator: Steven D Freedman, MD, PhD, Beth Israel Deaconess Medical Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2004

Primary Completion (Actual)

January 1, 2006

Study Completion (Actual)

January 1, 2006

Study Registration Dates

First Submitted

September 12, 2005

First Submitted That Met QC Criteria

September 12, 2005

First Posted (Estimate)

September 16, 2005

Study Record Updates

Last Update Posted (Actual)

December 13, 2017

Last Update Submitted That Met QC Criteria

December 11, 2017

Last Verified

December 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2004P-000316
  • 02820-4

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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