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:

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):

Telomerase

TERT

TERC

SBDS

DNA Helicase

Recruitment Keyword(s):

Inflammatory Bowel Disease

IBD

Condition(s):

Inflammatory Bowel Disease

IBD

Investigational Drug(s):

None

Investigational Device(s):

None

Interventions:

None

Supporting Site:

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):

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.

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.

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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008