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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00179439
Recruitment Status : Completed
First Posted : September 16, 2005
Last Update Posted : December 13, 2017
Boston Children’s Hospital
Information provided by (Responsible Party):
Steven Freedman, Beth Israel Deaconess Medical Center

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

Condition or disease Intervention/treatment
Primary Sclerosing Cholangitis Inflammatory Bowel Disease Procedure: nasal potential difference testing

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.

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Study Type : Observational
Estimated Enrollment : 50 participants
Official Title: Nasal Potential Difference Testing: Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Function in Children With Primary Sclerosing Cholangitis (PSC)
Actual Study Start Date : January 2004
Actual Primary Completion Date : January 2006
Actual Study Completion Date : January 2006

Primary Outcome Measures :
  1. CFTR DNA analysis

Secondary Outcome Measures :
  1. Nasal potential difference testing
  2. Sweat test

Information from the National Library of Medicine

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Ages Eligible for Study:   12 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00179439

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

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Responsible Party: Steven Freedman, MD PhD Full Professor Harvard Medical School, Beth Israel Deaconess Medical Center Identifier: NCT00179439     History of Changes
Other Study ID Numbers: 2004P-000316
First Posted: September 16, 2005    Key Record Dates
Last Update Posted: December 13, 2017
Last Verified: December 2017
Keywords provided by Steven Freedman, Beth Israel Deaconess Medical Center:
Additional relevant MeSH terms:
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Inflammatory Bowel Diseases
Cholangitis, Sclerosing
Intestinal Diseases
Gastrointestinal Diseases
Digestive System Diseases
Bile Duct Diseases
Biliary Tract Diseases