NPDT Evaluation in Children With CFTR and (PSC)

Inflammatory Bowel Disease Clinical Trial

— NPD  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00179439
• Other study ID #: 2004P-000316
• Secondary ID: 02820-4
• Status: Completed
• Phase: N/A
• First received: September 12, 2005
• Last updated: December 11, 2017
• Start date: January 2004
• Est. completion date: January 2006

Study information

• Verified date: December 2017
• Source: Beth Israel Deaconess Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 50
• Est. completion date: January 2006
• Est. primary completion date: January 2006
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Cholangitis
• Cholangitis, Sclerosing
• Inflammatory Bowel Disease
• Inflammatory Bowel Diseases
• Primary Sclerosing Cholangitis

Intervention

Procedure:
• nasal potential difference testing

Locations

Country	Name	City	State
United States	Beth Israel Deaconess Medical Center	Boston	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Beth Israel Deaconess Medical Center	Boston Children’s Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	CFTR DNA analysis
Secondary	Nasal potential difference testing
Secondary	Sweat test