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

This study is ongoing, but not recruiting participants.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
OHSU Knight Cancer Institute Identifier:
First received: May 9, 2009
Last updated: November 28, 2016
Last verified: November 2016

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 Intervention
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

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Dysregulation of Hematopoiesis in Fanconi Anemia

Resource links provided by NLM:

Further study details as provided by OHSU Knight Cancer Institute:

Primary Outcome Measures:
  • Loss of function analyses [ Time Frame: Duration of the study ]
  • 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 ]
  • 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 ]
  • Microsequencing of unique proteins [ Time Frame: Duration of the study ]
  • 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 ]
  • Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood [ Time Frame: Duration of the study ]
  • Identification of functional defects in Fanconi anemia hematopoietic stromal cells [ Time Frame: Duration of the study ]

Enrollment: 213
Study Start Date: June 1975
Estimated Study Completion Date: January 2020
Estimated Primary Completion Date: January 2020 (Final data collection date for primary outcome measure)
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.


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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
  More Information

Responsible Party: OHSU Knight Cancer Institute Identifier: NCT00900055     History of Changes
Other Study ID Numbers: IRB00000823
P30CA069533 ( US NIH Grant/Contract Award Number )
Study First Received: May 9, 2009
Last Updated: November 28, 2016

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

Additional relevant MeSH terms:
Multiple Myeloma
Neoplasms, Plasma Cell
Myeloproliferative Disorders
Myelodysplastic-Myeloproliferative Diseases
Fanconi Anemia
Fanconi Syndrome
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 processed this record on April 27, 2017