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: May 11, 2016
Last verified: May 2016

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

PURPOSE: The purpose of this study is to analyze tissue samples from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders, or myeloma in the laboratory.

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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • Microsequencing of unique proteins [ Time Frame: Duration of the study ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood [ Time Frame: Duration of the study ] [ Designated as safety issue: No ]
  • Identification of functional defects in Fanconi anemia hematopoietic stromal cells [ Time Frame: Duration of the study ] [ Designated as safety issue: No ]

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 with FA.
  • Identify functional defects in hematopoietic stromal cells from patients with FA.

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
Genders Eligible for Study:   Both
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  OHSU-HEM-98030-L 
Study First Received: May 9, 2009
Last Updated: May 11, 2016
Health Authority: United States: Federal Government

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:
Fanconi Anemia
Fanconi Syndrome
Multiple Myeloma
Myelodysplastic-Myeloproliferative Diseases
Myeloproliferative Disorders
Neoplasms, Plasma Cell
Anemia, Aplastic
Anemia, Hypoplastic, Congenital
Blood Protein Disorders
Bone Marrow Diseases
Cardiovascular Diseases
DNA Repair-Deficiency Disorders
Genetic Diseases, Inborn
Hematologic Diseases
Hemorrhagic Disorders
Hemostatic Disorders
Immune System Diseases
Immunoproliferative Disorders
Kidney Diseases
Lymphoproliferative Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Neoplasms by Histologic Type
Renal Tubular Transport, Inborn Errors
Urologic Diseases
Vascular Diseases processed this record on May 22, 2016