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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00900055
Recruitment Status : Active, not recruiting
First Posted : May 12, 2009
Last Update Posted : January 10, 2018
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Laura Newell, OHSU Knight Cancer Institute

Brief Summary:

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.

Condition or disease Intervention/treatment
Chronic Myeloproliferative Disorders Fanconi Anemia Multiple Myeloma and Plasma Cell Neoplasm Myelodysplastic/Myeloproliferative Neoplasms Genetic: microarray analysis Genetic: polyacrylamide gel electrophoresis Genetic: polymerase chain reaction Genetic: protein expression analysis Genetic: reverse transcriptase-polymerase chain reaction Genetic: western blotting Other: chromatography Other: high performance liquid chromatography Other: immunoenzyme technique

Detailed Description:


  • 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.

Study Type : Observational
Actual Enrollment : 213 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Dysregulation of Hematopoiesis in Fanconi Anemia
Study Start Date : June 1975
Estimated Primary Completion Date : January 2020
Estimated Study Completion Date : January 2020

Primary Outcome Measures :
  1. Loss of function analyses [ Time Frame: Duration of the study ]
  2. Proteins binding to Fanconi anemia, complementation group C (FACC) gene-product by affinity chromatography of nuclear and whole cell lysates of normal cells [ Time Frame: Duration of the study ]
  3. Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins [ Time Frame: Duration of the study ]
  4. Microsequencing of unique proteins [ Time Frame: Duration of the study ]
  5. Location of specific downstream block point imposed by antisense molecules using antibodies specific to signal transduction, cell cycle, or repair proteins for the FACC protein [ Time Frame: Duration of the study ]
  6. Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood [ Time Frame: Duration of the study ]
  7. Identification of functional defects in Fanconi anemia hematopoietic stromal cells [ Time Frame: Duration of the study ]

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 55 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
The Center for Hematologic Malignancies, the Knight Cancer Institute at OHSU, and the Bone Marrow Failure clinic at Doernbecher Children's Hospital at OHSU will be centers for recruitment.


  • 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)


  • 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


  • Not specified

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00900055

United States, Oregon
Knight Cancer Institute at Oregon Health and Science University
Portland, Oregon, United States, 97239-3098
Sponsors and Collaborators
OHSU Knight Cancer Institute
National Cancer Institute (NCI)
Principal Investigator: Grover C. Bagby, MD OHSU Knight Cancer Institute

Responsible Party: Laura Newell, Assistant Professor, OHSU Knight Cancer Institute Identifier: NCT00900055     History of Changes
Other Study ID Numbers: IRB00000823
P30CA069533 ( U.S. NIH Grant/Contract )
First Posted: May 12, 2009    Key Record Dates
Last Update Posted: January 10, 2018
Last Verified: January 2018

Keywords provided by Laura Newell, OHSU Knight Cancer Institute:
Fanconi anemia
multiple myeloma and other plasma cell neoplasms
chronic myeloproliferative disorders
myelodysplastic/myeloproliferative neoplasms

Additional relevant MeSH terms:
Fanconi Anemia
Fanconi Syndrome
Multiple Myeloma
Neoplasms, Plasma Cell
Myeloproliferative Disorders
Myelodysplastic-Myeloproliferative Diseases
Neoplasms by Histologic Type
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Blood Protein Disorders
Hematologic Diseases
Hemorrhagic Disorders
Lymphoproliferative Disorders
Immunoproliferative Disorders
Immune System Diseases
Bone Marrow Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors