Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma



Status:Active, not recruiting
Conditions:Cancer, Blood Cancer, Anemia, Hematology
Therapuetic Areas:Hematology, Oncology
Healthy:No
Age Range:1 - 55
Updated:1/12/2018
Start Date:June 1975
End Date:January 2020

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Dysregulation of Hematopoiesis in Fanconi Anemia

RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with
Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory
may help doctors learn more about the causes of blood cancers.

PURPOSE: The purpose of this study is to analyze in the laboratory blood and bone marrow
cells from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders,
or myeloma.

OBJECTIVES:

- Identify the specific molecular function of the Fanconi anemia (FA) complementing gene
products in hematopoietic progenitor cells from patients and normal volunteers.

- Identify functional defects in hematopoietic stromal cells, including macrophages, from
patients with FA, and selected blood cancers as well as normal volunteers.

OUTLINE: Peripheral blood mononuclear leukocytes, skin fibroblasts, and marrow fibroblasts
are collected for loss-of-function and gain-of-function analysis related to the Fanconi
anemia complementing gene.

DISEASE CHARACTERISTICS:

- Meets 1 of the following criteria:

- Diagnosis of one of the following:

- Fanconi's anemia requiring bone marrow biopsy as part of standard care
(adults and children)

- Myeloproliferative disorder or myeloma (adults)

- Healthy volunteer, meeting 1 of the following criteria:

- Over 18 years of age

- Bone marrow transplant donor (children)

PATIENT CHARACTERISTICS:

- Hemoglobin > 13 g/dL

- White blood cells (WBC) > 4,000/mm³

- Platelet count > 150,000/mm³

- No clinical signs or symptoms of acute or subacute infections (viral, bacterial, or
fungal)

- No known blood abnormality (healthy volunteers)

- No allergies to lidocaine or xylocaine

PRIOR CONCURRENT THERAPY:

- Not specified
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