NPDT Evaluation in Children With CFTR and (PSC)

NCT ID: NCT00179439

Last Updated: 2017-12-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-01-31

Study Completion Date

2006-01-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Primary Sclerosing Cholangitis Inflammatory Bowel Disease

Keywords

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PSC IBD CFTR

Interventions

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nasal potential difference testing

Intervention Type PROCEDURE

Eligibility Criteria

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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
Minimum Eligible Age

12 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role collaborator

Beth Israel Deaconess Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Steven Freedman

MD PhD Full Professor Harvard Medical School

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Harpreet Pall, MD

Role: STUDY_DIRECTOR

Boston Children's Hospital

Steven D Freedman, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Beth Israel Deaconess Medical Center

Locations

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Beth Israel Deaconess Medical Center

Boston, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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02820-4

Identifier Type: -

Identifier Source: secondary_id

2004P-000316

Identifier Type: -

Identifier Source: org_study_id