Cytokine Gene Polymorphisms in Bone Marrow Failure
| Status: | Completed |
|---|---|
| Conditions: | Hematology, Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | 2 - 80 |
| Updated: | 9/26/2018 |
| Start Date: | June 10, 2004 |
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.
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.
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.
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.
- INCLUSION CRITERIA:
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.
EXCLUSION CRITERIA:
Subjects unable to comprehend the investigational nature of the laboratory research.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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