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Cytokine Gene Polymorphisms in Bone Marrow Failure

2 Years
80 Years
Not Enrolling
Bone Marrow Diseases

Thank you

Trial Information

Cytokine Gene Polymorphisms in Bone Marrow Failure

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

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.


Subjects unable to comprehend the investigational nature of the laboratory research.

Type of Study:


Study Design:


Principal Investigator

Neal S Young, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Heart, Lung, and Blood Institute (NHLBI)


United States: Federal Government

Study ID:




Start Date:

June 2004

Completion Date:

Related Keywords:

  • Bone Marrow Diseases
  • Aplastic Anemia
  • Mylodysplastic Syndrome
  • Pure Red Cell Aplasia
  • Tissue Procurement
  • Tumor Necrosis Factor Alpha (TNF-Alpha)
  • Interferon-Gamma (IFN-Gamma)
  • Transforming Growth Factor Beta 1 (TGF-B1)
  • Interleukin-10 (IL-10)
  • Interleukin-1 Receptor Antagonist (IL-1 Ra)
  • Vitamin D Receptor (VitD R)
  • Bone Marrow Failure
  • Myelodysplastic Syndrome
  • MDS
  • PRCA
  • Bone Marrow Diseases
  • Pancytopenia



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892