Telomere Repair Gene Mutation in Inflammatory Bowel Disease

NCT00353639 | Completed

• 2 other identifiers: 06008206-H-0082
• Study Type: observational
• Target: 95
• Locations: 1 country
• Sites: 1

Brief Summary

This study will evaluate and compare the genes of the telomere repair complex in healthy control subjects, patients with blood diseases, and patients with inflammatory bowel disease to identify what, if any, changes are associated specifically with inflammatory bowel disease. Patients between 2 and 80 years of age with ulcerative colitis or regional enteritis may be eligible for this study. Participants are recruited from the practice of Dr. Stuart Danovitch, Washington, D.C. Researchers have established that minor differences in a specific set of genes called the telomere repair complex are related to immune-mediated diseases of the bone marrow. NIH researchers are now interested in whether inflammatory bowel disease and other autoimmune diseases show a similar pattern of genetic differences. Participants provide a cell sample for evaluation of the telomere repair complex. The sample is collected via buccal swab, a gentle scraping of the inside of the cheek, and stored for use in research.

Conditions

Inflammatory Bowel Disease

Keywords

Ulcera; Telomerase; TERT; TERC; SBDS; DNA Helicase; Inflammatory Bowel Disease; IBD

Outcome Measures

Primary Outcomes (1)

• To identify if telomere repair complex gene mutations are abnormally prevalent among patients with IBO.

  To identify if telomere repair complex gene mutations are abnormally prevalent among patients with IBO.

  Ongoing

Secondary Outcomes (2)

• To correlate telomere repair gene mutations in subjects with immune mediated disease stratified based on diagnosis as they relate to clinical course and response to therapy.

  Ongoing

• To compare the telomere repair gene mutations of normal individuals (from large populations studies in the public domain) as well as to those of patients with known bone marrow failure

  Ongoing

Study Arms (1)

IBD subjects

Subjects with Inflammatory Bowell Disease

Eligibility Criteria

• Age: 2 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Inflammatory Bowell Disease

You may qualify if:

• Diagnosis of ulcerative colitis or regional enteritis
• For adults:
• Ability to comprehend the investigational nature of the study and provide informed consent. Or
• For minors: Written informed consent from one parent or guardian and informed assent. The process will be explained to the minor on a level of complexity appropriate for their age and ability to comprehend.
• Age greater than 2 but less or equal to 80 years old

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Inflammatory Bowel Diseases

Condition Hierarchy (Ancestors)

Gastroenteritis; Gastrointestinal Diseases; Digestive System Diseases; Intestinal Diseases

Study Officials

• Neal S Young, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 18, 2006
• First Posted: July 19, 2006
• Study Start: May 15, 2006
• Primary Completion: May 15, 2006
• Study Completion: May 21, 2020
• Last Updated: May 22, 2020

Record last verified: 2020-05

Locations

US (1)