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Sponsors and Collaborators: |
Beth Israel Deaconess Medical Center Children's Hospital Boston |
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Information provided by: | Beth Israel Deaconess Medical Center |
ClinicalTrials.gov Identifier: | NCT00179439 |
The investigators hypothesize that PSC in children is associated with mutations and functional changes of the cystic fibrosis (CF) gene.
Condition | Intervention |
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Primary Sclerosing Cholangitis Inflammatory Bowel Disease |
Procedure: nasal potential difference testing |
Study Type: | Interventional |
Study Design: | Diagnostic, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment |
Official Title: | Nasal Potential Difference Testing: Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Function in Children With Primary Sclerosing Cholangitis (PSC) |
Estimated Enrollment: | 50 |
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.
Ages Eligible for Study: | 12 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
United States, Massachusetts | |
Beth Israel Deaconess Medical Center | |
Boston, Massachusetts, United States, 02215 |
Study Director: | Harpreet Pall, MD | Children's Hospital Boston |
Principal Investigator: | Steven D Freedman, MD, PhD | Beth Israel Deaconess Medical Center |
Study ID Numbers: | 2004P-000316, 02820-4 |
Study First Received: | September 12, 2005 |
Last Updated: | May 9, 2008 |
ClinicalTrials.gov Identifier: | NCT00179439 |
Health Authority: | United States: Institutional Review Board |
PSC IBD CFTR |
Primary sclerosing cholangitis Cholangitis, Sclerosing Fibrosis Gastrointestinal Diseases Inflammatory Bowel Diseases Intestinal Diseases Cholangitis |
Digestive System Diseases Cystic Fibrosis Bile Duct Diseases Biliary Tract Diseases Gastroenteritis Cystic fibrosis |