Bone Marrow DiseasesNCT00085670
Cytokine Gene Polymorphisms in Bone Marrow Failure
An observational study of Bone Marrow Diseases, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
This study will examine whether cytokine gene polymorphisms affect the progression or response to therapy of bone marrow failure disorders. Cytokine genes instruct cells to produce proteins called cytokines that influence immune system response. Read more about this study
- Who is it for?
- Ages 2 to 80 years
- Conditions the study is for
- Bone Marrow Diseases
- How many people
- 79 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Feb 2005to 14 Mar 2007
- 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: This is an ancillary study to a primary treatment protocol. Clinical data from the treatment protocol will be used in this protocol's analyses. All testing will be done on samples collected and stored for research purposes from consenting bone marrow failure subjects who have or will be participating on Hematology Branch bone marrow failure treatment research protocols.
Who may be able to join
- Participation on a Hematology Branch bone marrow failure treatment protocol.
- Diagnosis with one of the following bone marrow failure conditions:
- Acquired aplastic anemia
- Myelodysplastic syndrome (MDS)
- Pure red cell aplasia (PRCA)
- For adults: Ability to comprehend the investigational nature of the study and provide informed consent. For minors: Written informed consent from one parent or guardian. Informed assent from minors: The process will be explained to the minor on a level of complexity appropriate for their age and ability to comprehend.
- Age greater than or equal to 2 and less than or equal to 80.
Who cannot join
- Subjects unable to comprehend the investigational nature of the laboratory research.
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
This study will examine whether cytokine gene polymorphisms affect the progression or response to therapy of bone marrow failure disorders. Cytokine genes instruct cells to produce proteins called cytokines that influence immune system response. As with many genes, the cytokine genes differ slightly from person to person. These differences are called gene polymorphisms. Different patients with the same bone marrow failure disease often progress and respond to treatment differently. This study will look at the possible role of cytokine gene polymorphisms in these differences.
Patients between 2 and 80 years old who have participated in an NHLBI Hematology Branch treatment protocol for acquired aplastic anemia, myelodysplastic syndrome, or pure red cell aplasia are recruited to participate in this study. Blood collected and stored at the time of screening for the treatment protocol will be tested for cytokine gene polymorphisms. No additional tests, procedures, or treatments are involved in this study.
Read the detailed description
The NHLBI Hematology Branch is investigating features that may affect the clinical course of bone marrow failure patients.
We are particularly interested in identifying factors, which determine treatment response and outcome. Cytokines are biological mediators of the immune response. In a normal population there is considerable variation in the precise sequence of the genes which control cytokine production (Cytokine Gene Polymorphism or CGP). As a consequence individuals differ in the quality of the immune response they mount against self or foreign antigens. Since the bone marrow failure disorders aplastic anemia and myelodysplastic syndrome involve auto-immune suppression of marrow function, it is important to discover whether there are any recurrent patterns of cytokine production in these disorders which may contribute to the marrow failure. This can be done by studying the sequences of the genes that control cytokine production to find out whether there are any recurrent gene patterns in the diseases studied. In addition we need to understand why some patients fail to respond to immunosuppressive treatments. By comparing CGP in responders and non-responders we may be able to find patterns of cytokine production that are favorable or unfavorable for response. Better understanding of CGPs in marrow failure syndromes should make it possible to improve the outcome for patients who fail immune suppression by using drugs which block specific cytokines.
None of these polymorphisms are associated with known clinical disease to be classifiable as a 'genetic defect'. All testing will be done on samples collected and stored for research purposes from consenting bone marrow failure subjects who have or will be participating on Hematology Branch research protocols.
- Conditions
- Bone Marrow Diseases
- Keywords
- Tumor Necrosis Factor Alpha (TNF-Alpha), Interferon-Gamma (IFN-Gamma), Transforming Growth Factor Beta 1 (TGF-B1), Interleukin-10 (IL-10), Interleukin-6 (IL-6)
- Medical subject headings
- Bone Marrow Diseases, Camurati-Engelmann Syndrome
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 |
|---|---|---|
| Group 1 | Bone marrow failure subjects |
What is being measured
The primary outcome is the main question the study is designed to answer.
To define the variability that exists in cytokine genes from bone marrow failure patients by typing their DNA for polymorphisms.
Ongoing
Measured: Ongoing
Secondary outcomes (1)
Compare cytokine polymorphisms of normal individuals (public domain studies and 03-H-0121) to those of patients with known bone marrow failure.Correlate cytokine gene polymorphisms of aplastic anemia and other bone marrow failure syndrome patien...
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jun 2004 (estimated)
- Study start11 Feb 2005
- Primary completion14 Mar 2007
- Study completion14 Mar 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bone Marrow DiseasesStudies 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
- Cohort
- Time perspective
- Other
- Enrolment
- 79 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
- NCT00085670
- Sponsor's protocol ID
- 040213
- Other IDs
- 04-H-0213
- Status last verified
- Sep 2020
- First submitted
- 10 Jun 2004
- Last updated
- 10 Sep 2020
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cytokine Gene Polymorphisms in Bone Marrow Failure
- ClinicalTrials.gov ID
- NCT00085670
- Acronym / sponsor ID
- 040213
- Conditions
- Bone Marrow Diseases
- Keywords
- Tumor Necrosis Factor Alpha (TNF-Alpha), Interferon-Gamma (IFN-Gamma), Transforming Growth Factor Beta 1 (TGF-B1), Interleukin-10 (IL-10), Interleukin-6 (IL-6)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 79 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 11 Feb 2005 (actual)
- Primary completion
- 14 Mar 2007 (actual)
- Study completion
- 14 Mar 2007 (actual)
- First posted
- 11 Jun 2004 (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 examine whether cytokine gene polymorphisms affect the progression or response to therapy of bone marrow failure disorders. Cytokine genes instruct cells to produce proteins called cytokines that influence immune system response. As with many genes, the cytokine genes differ slightly from person to person. These differences are called gene polymorphisms. Different patients with the same bone marrow failure disease often progress and respond to treatment differently. This study will look at the possible role of cytokine gene polymorphisms in these differences.
Patients between 2 and 80 years old who have participated in an NHLBI Hematology Branch treatment protocol for acquired aplastic anemia, myelodysplastic syndrome, or pure red cell aplasia are recruited to participate in this study. Blood collected and stored at the time of screening for the treatment protocol will be tested for cytokine gene polymorphisms. No additional tests, procedures, or treatments are involved in this study.
Detailed description
The NHLBI Hematology Branch is investigating features that may affect the clinical course of bone marrow failure patients.
We are particularly interested in identifying factors, which determine treatment response and outcome. Cytokines are biological mediators of the immune response. In a normal population there is considerable variation in the precise sequence of the genes which control cytokine production (Cytokine Gene Polymorphism or CGP). As a consequence individuals differ in the quality of the immune response they mount against self or foreign antigens. Since the bone marrow failure disorders aplastic anemia and myelodysplastic syndrome involve auto-immune suppression of marrow function, it is important to discover whether there are any recurrent patterns of cytokine production in these disorders which may contribute to the marrow failure. This can be done by studying the sequences of the genes that control cytokine production to find out whether there are any recurrent gene patterns in the diseases studied. In addition we need to understand why some patients fail to respond to immunosuppressive treatments. By comparing CGP in responders and non-responders we may be able to find patterns of cytokine production that are favorable or unfavorable for response. Better understanding of CGPs in marrow failure syndromes should make it possible to improve the outcome for patients who fail immune suppression by using drugs which block specific cytokines.
None of these polymorphisms are associated with known clinical disease to be classifiable as a 'genetic defect'. All testing will be done on samples collected and stored for research purposes from consenting bone marrow failure subjects who have or will be participating on Hematology Branch research protocols.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Group 1 | – | –Bone marrow failure subjects |
Who may qualify
- Ages
- 2 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This is an ancillary study to a primary treatment protocol. Clinical data from the treatment protocol will be used in this protocol's analyses. All testing will be done on samples collected and stored for research purposes from consenting bone marrow failure subjects who have or will be participating on Hematology Branch bone marrow failure treatment research protocols.
Key inclusion criteria (7 listed)
- Participation on a Hematology Branch bone marrow failure treatment protocol.
- Acquired aplastic anemia
- Myelodysplastic syndrome (MDS)
- Pure red cell aplasia (PRCA)
- For adults: Ability to comprehend the investigational nature of the study and provide informed consent. For minors: Written informed consent from one parent or guardian. Informed assent from minors: The process will be explained to the minor on a level of complexity appropriate for their age and ability to comprehend.
Key exclusion criteria (1 listed)
- Subjects unable to comprehend the investigational nature of the laboratory research.
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 define the variability that exists in cytokine genes from bone marrow failure patients by typing their DNA for polymorphisms.
Time frame: Ongoing
Ongoing
1 secondary outcome
Compare cytokine polymorphisms of normal individuals (public domain studies and 03-H-0121) to those of patients with known bone marrow failure.Correlate cytokine gene polymorphisms of aplastic anemia and other bone marrow failure syndrome patien...
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 10 Sep 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 Bone Marrow Diseases, 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 7 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 10 Sep 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 define the variability that exists in cytokine genes from bone marrow failure patients by typing their DNA for polymorphisms. (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 10 Sep 2020.