Ignite Creation Date:
2024-05-05 @ 4:58 PM
Last Modification Date:
2024-10-26 @ 9:26 AM
Study NCT ID:
NCT00353639
Status:
COMPLETED
Last Update Posted:
2020-05-22
First Post:
2006-07-18
Brief Title:
Telomere Repair Gene Mutation in Inflammatory Bowel Disease
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Telomere Repair Gene Mutations in Inflammatory Bowel Disease
Status:
COMPLETED
Status Verified Date:
2020-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 DC
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
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 DC
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
Detailed Description:
We have identified inherited mutations in genes of the telomere repair complex in patients with acquired aplastic anemia These mutations diminish the ability of cells to repair the ends of chromosomes called telomeres which normally shorten with each cell division Mutations in TERC the gene which encodes for the RNA template of the complex in TERT the gene for the enzyme in the complex and also in the Schwachman-Bodian-Diamond syndrome gene SBDS which we believe to be associated with telomere repair lead to reduced telomerase activity diminished numbers of hematopoietic cells in the bone marrow and presumably also a deficiency in the ability of cells to respond to immunological attack and destruction of the hematopoietic system
This laboratory research protocol will allow us to evaluate whether similar gene mutations might underlie other autoimmune diseases here specifically inflammatory bowel disease which share broad pathophysiologic features with immune-mediated aplastic anemia We will directly assess by DNA sequencing suspect genes TERC TERT SBDS DNA helicases and others in buccal mucosal samples obtained from patients with inflammatory bowel disease IBD Analyses from large numbers of controls have defined polymorphisms for these genes IBD samples will allow us to determine whether mutations in these genes are more prevalent in this patient population and to test the hypotheses that telomere repair defects underlie human autoimmunity or that these genes are specifically involved in hematology as risks factors for bone marrow failure
This laboratory research protocol will allow us to evaluate whether similar gene mutations might underlie other autoimmune diseases here specifically inflammatory bowel disease which share broad pathophysiologic features with immune-mediated aplastic anemia We will directly assess by DNA sequencing suspect genes TERC TERT SBDS DNA helicases and others in buccal mucosal samples obtained from patients with inflammatory bowel disease IBD Analyses from large numbers of controls have defined polymorphisms for these genes IBD samples will allow us to determine whether mutations in these genes are more prevalent in this patient population and to test the hypotheses that telomere repair defects underlie human autoimmunity or that these genes are specifically involved in hematology as risks factors for bone marrow failure
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 06-H-0082 | None | None | None |