Inflammatory Bowel DiseaseNCT00353639
Telomere Repair Gene Mutation in Inflammatory Bowel Disease
An observational study of Inflammatory Bowel Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 80 years
- Conditions the study is for
- Inflammatory Bowel Disease
- How many people
- 95 participants
- Where
- 1 siteUnited States
- Study dates
- 15 May 2006to 21 May 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with Inflammatory Bowell Disease
Who may be able to join
- 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
Who cannot join
- All subjects not fulfilling the inclusion criteria will be considered ineligible.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Telomere Repair Gene Mutations in Inflammatory Bowel Disease
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.
Read more
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.
Read the 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.
- Conditions
- Inflammatory Bowel Disease
- Keywords
- Ulcera, Telomerase, TERT, TERC, SBDS, DNA Helicase, Inflammatory Bowel Disease, IBD
- Medical subject headings
- Inflammatory Bowel Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| IBD subjects | Subjects with Inflammatory Bowell Disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
We aim to correlate telomere repair gene mutations in subjects with immune mediated disease stratified based on diagnosis with clinical course and response to therapy.
Measured: 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
We aim to compare the telomere repair gene mutations of normal individuals with those of patients with known bone marrow failure
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2006 (estimated)
- Study start15 May 2006
- Primary completion15 May 2006
- Study completion21 May 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inflammatory Bowel DiseaseStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 95 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Neal S Young, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00353639
- Sponsor's protocol ID
- 060082
- Other IDs
- 06-H-0082
- Status last verified
- May 2020
- First submitted
- 18 Jul 2006
- Last updated
- 22 May 2020
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Telomere Repair Gene Mutations in Inflammatory Bowel Disease
- ClinicalTrials.gov ID
- NCT00353639
- Acronym / sponsor ID
- 060082
- Conditions
- Inflammatory Bowel Disease
- Keywords
- Ulcera, Telomerase, TERT, TERC, SBDS, DNA Helicase, Inflammatory Bowel Disease, IBD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 95 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 15 May 2006 (actual)
- Primary completion
- 15 May 2006 (actual)
- Study completion
- 21 May 2020 (actual)
- First posted
- 19 Jul 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| IBD subjects | – | –Subjects with Inflammatory Bowell Disease |
Who may qualify
- Ages
- 2 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with Inflammatory Bowell Disease
Key inclusion criteria (5 listed)
- Diagnosis of ulcerative colitis or regional enteritis
- 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
Key exclusion criteria (1 listed)
- All subjects not fulfilling the inclusion criteria will be considered ineligible.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To identify if telomere repair complex gene mutations are abnormally prevalent among patients with IBO.
Time frame: Ongoing
To identify if telomere repair complex gene mutations are abnormally prevalent among patients with IBO.
2 secondary outcomes
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.
Time frame: 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
Time frame: Ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2020.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Neal S Young, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inflammatory Bowel Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 May 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To identify if telomere repair complex gene mutations are abnormally prevalent among patients with IBO. (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 May 2020.