Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants

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: NCT00896740
Recruitment Status : Terminated
First Posted : May 12, 2009
Last Update Posted : December 4, 2017
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Grover Bagby, OHSU Knight Cancer Institute

Brief Summary:

RATIONALE: Studying samples of bone marrow from patients with Fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to Fanconi anemia.

PURPOSE: This laboratory study is evaluating gene function in bone marrow cells from patients with Fanconi anemia and from healthy participants.

Condition or disease Intervention/treatment
Fanconi Anemia Genetic: microarray analysis Procedure: biopsy

Detailed Description:


  • Describe the complete hematopoietic transcriptomes of Fanconi cells of every common complementation group (e.g., A, C, G, and F) as well as transcriptomes of neoplastic cells derived from bone marrow of patients with Fanconi anemia.
  • Define large-scale dynamic gene expression data in these patients.

OUTLINE: This is a multicenter study.

Patients and healthy volunteers undergo bone marrow aspiration or biopsy for biological studies. Samples are analyzed for gene expression profiles using microarray assays.

PROJECTED ACCRUAL: A total of 80 patients and 10 healthy volunteers will be accrued for this study.

Study Type : Observational
Actual Enrollment : 90 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Analysis of Fanconi Anemia Gene Function by Microarray Analysis of Bone Marrow Cells
Study Start Date : March 2002
Actual Primary Completion Date : September 2007
Actual Study Completion Date : September 2007

Primary Outcome Measures :
  1. Comparison of Fanconi anemia (FA) hematopoietic cells vs normal hematopoietic cells
  2. Comparison of FA hematopoietic cells from children with myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) vs children (siblings) with FA but without MDS/AML
  3. Comparison of FA cells from different complementation groups

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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:   Non-Probability Sample
Study Population
FA Patients are recruited from OHSU Clinics. Healthy Normal donors are recruited with an IRB approved advertisement which runs in the Outlook and is posted on bulletin boards around campus


  • Meets 1 of the following criteria:

    • Diagnosis of Fanconi anemia

      • Requires bone marrow aspiration or biopsy for clinical purposes
    • Healthy volunteer

      • Over 18 years of age
      • No known blood abnormality


  • Platelet count > 150,000/mm^3
  • White Blood Cell(WBC) > 4,000/mm^3
  • Hemoglobin > 13 g/dL
  • No clinical signs or symptoms of acute or subacute infection (e.g., viral, bacterial, or fungal)
  • 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): NCT00896740

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: Grover Bagby, Professor Emeritus, OHSU Knight Cancer Institute Identifier: NCT00896740     History of Changes
Other Study ID Numbers: IRB00000713
CDR0000445212 ( Other Identifier: NCI PDQ )
First Posted: May 12, 2009    Key Record Dates
Last Update Posted: December 4, 2017
Last Verified: November 2017

Keywords provided by Grover Bagby, OHSU Knight Cancer Institute:
Fanconi anemia

Additional relevant MeSH terms:
Fanconi Syndrome
Fanconi Anemia
Hematologic Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors