Cytokine Gene Polymorphisms in Bone Marrow Failure
Information source: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov processed this data on August 20, 2015 Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Bone Marrow Diseases
Phase: N/A
Status: Completed
Sponsored by: National Heart, Lung, and Blood Institute (NHLBI) Official(s) and/or principal investigator(s): Neal S Young, M.D., Principal Investigator, Affiliation: National Heart, Lung, and Blood Institute (NHLBI)
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. 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.
Clinical Details
Official title: Cytokine Gene Polymorphisms in Bone Marrow Failure
Study design: N/A
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.
Eligibility
Minimum age: 2 Years.
Maximum age: 80 Years.
Gender(s): Both.
Criteria:
- 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.
Locations and Contacts
National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland 20892, United States
Additional Information
NIH Clinical Center Detailed Web Page
Related publications: Young NS, Maciejewski J. The pathophysiology of acquired aplastic anemia. N Engl J Med. 1997 May 8;336(19):1365-72. Review. Haukim N, Bidwell JL, Smith AJ, Keen LJ, Gallagher G, Kimberly R, Huizinga T, McDermott MF, Oksenberg J, McNicholl J, Pociot F, Hardt C, D'Alfonso S. Cytokine gene polymorphism in human disease: on-line databases, supplement 2. Genes Immun. 2002 Sep;3(6):313-30. Review. Dufour C, Corcione A, Svahn J, Haupt R, Battilana N, Pistoia V. Interferon gamma and tumour necrosis factor alpha are overexpressed in bone marrow T lymphocytes from paediatric patients with aplastic anaemia. Br J Haematol. 2001 Dec;115(4):1023-31.
Starting date: June 2004
Last updated: November 11, 2014
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