NPDT Evaluation in Children With CFTR and (PSC) (NPD)
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|ClinicalTrials.gov Identifier: NCT00179439|
Recruitment Status : Completed
First Posted : September 16, 2005
Last Update Posted : December 13, 2017
|Condition or disease||Intervention/treatment|
|Primary Sclerosing Cholangitis Inflammatory Bowel Disease||Procedure: nasal potential difference testing|
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|
|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|
- CFTR DNA analysis
- Nasal potential difference testing
- Sweat test
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 ClinicalTrials.gov identifier (NCT number): NCT00179439
|United States, Massachusetts|
|Beth Israel Deaconess Medical Center|
|Boston, Massachusetts, United States, 02215|
|Study Director:||Harpreet Pall, MD||Boston Children’s Hospital|
|Principal Investigator:||Steven D Freedman, MD, PhD||Beth Israel Deaconess Medical Center|