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

This study has been terminated.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
OHSU Knight Cancer Institute Identifier:
First received: May 9, 2009
Last updated: November 20, 2012
Last verified: October 2007

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 Intervention
Fanconi Anemia
Genetic: microarray analysis
Procedure: biopsy

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Analysis of Fanconi Anemia Gene Function by Microarray Analysis of Bone Marrow Cells

Resource links provided by NLM:

Further study details as provided by OHSU Knight Cancer Institute:

Primary Outcome Measures:
  • Comparison of Fanconi anemia (FA) hematopoietic cells vs normal hematopoietic cells [ Designated as safety issue: No ]
  • Comparison of FA hematopoietic cells from children with myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) vs children (siblings) with FA but without MDS/AML [ Designated as safety issue: No ]
  • Comparison of FA cells from different complementation groups [ Designated as safety issue: No ]

Enrollment: 90
Study Start Date: March 2002
Study Completion Date: September 2007
Estimated Primary Completion Date: September 2007 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   1 Year to 55 Years
Genders Eligible for Study:   Both
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
  Contacts and Locations
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Please refer to this study by its identifier: 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
  More Information

Responsible Party: OHSU Knight Cancer Institute Identifier: NCT00896740     History of Changes
Other Study ID Numbers: CDR0000445212  OHSU-HEM-01079-L  IRB00000713 
Study First Received: May 9, 2009
Last Updated: November 20, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by OHSU Knight Cancer Institute:
Fanconi anemia

Additional relevant MeSH terms:
Fanconi Anemia
Fanconi Syndrome
Anemia, Aplastic
Anemia, Hypoplastic, Congenital
Bone Marrow Diseases
DNA Repair-Deficiency Disorders
Genetic Diseases, Inborn
Hematologic Diseases
Kidney Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Urologic Diseases processed this record on May 26, 2016