Protocol Number: 04-H-0213

Title:

Cytokine Gene Polymorphisms in Bone Marrow Failure

Number:

04-H-0213

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.

Sponsoring Institute:

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Completed Study; data analyses ongoing

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria: This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Special Instructions:

Currently Not Provided

Keyword(s):

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)

Recruitment Keyword(s):

Bone Marrow Failure

Aplastic Anemia

Myelodysplastic Syndrome

MDS

Pure Red Cell Aplasia

PRCA

Condition(s):

Bone Marrow Diseases

Investigational Drug(s):

None

Investigational Device(s):

None

Interventions:

None

Supporting Site:

National Heart, Lung and Blood Institute

Contact(s):

This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Citation(s):

Young NS, Maciejewski J. The pathophysiology of acquired aplastic anemia. N Engl J Med. 1997 May 8;336(19):1365-72. Review. No abstract available.

Haukim N, et al. Cytokine gene polymorphism in human disease: on-line databases, supplement 2. Genes Immun. 2002 Sep;3(6):313-30. Review. No abstract available.

Dufour C, et al. Interferon gamma and tumour necrosis factor alpha are overexpressed in bone marrow T lymphocytes from paediatric patients with aplastic anaemia. Br J Haematol. 2001Dec;115(4):1023-31.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department Clinical Research Informatics, CC.

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