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Protocol Number:
06-H-0082
- Title:
Telomere Repair Gene Mutations in Inflammatory Bowel Disease
- Number:
06-H-0082
- 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.
- Sponsoring Institute:
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National Heart, Lung and Blood Institute (NHLBI)
- Recruitment Detail
- Type:
Completed Study; data analyses ongoing
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility Criteria:
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Special Instructions:
Currently Not Provided
- Keyword(s):
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Telomerase
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TERT
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TERC
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SBDS
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DNA Helicase
- Recruitment Keyword(s):
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Inflammatory Bowel Disease
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IBD
- Condition(s):
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Inflammatory Bowel Disease
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IBD
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Interventions:
- None
- Supporting Site:
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Stuart Danovitch, M.D., Washington, DC 20015
- Contact(s):
-
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Citation(s):
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Young NS, Maciejewski J. The pathophysiology of acquired aplastic anemia.N Engl J Med. 1997 May 8;336(19):1365-72. Review. No abstract available.
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Zeng W, Maciejewski JP, Chen G, Young NS. Limited heterogeneity of T cell receptor BV usage in aplastic anemia. J Clin Invest. 2001 Sep;108(5):765-73.
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Risitano AM, Maciejewski JP, Green S, Plasilova M, Zeng W, Young NS. In-vivo dominant immune responses in aplastic anaemia: molecular tracking of putatively pathogenetic T-cell clones by TCR beta-CDR3 sequencing. Lancet. 2004 Jul 24-30;364(9431):355-64.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/30/2009
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