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

Dysregulation of Hematopoiesis in Fanconi Anemia

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.

Study Overview

• Status: Completed
• Conditions: Chronic Myeloproliferative Disorders; Fanconi Anemia; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic/Myeloproliferative Neoplasms
• Intervention / Treatment: Genetic: protein expression analysis; Other: immunoenzyme technique; Other: high performance liquid chromatography; Genetic: reverse transcriptase-polymerase chain reaction; Genetic: microarray analysis; Genetic: polymerase chain reaction; Genetic: polyacrylamide gel electrophoresis; Genetic: western blotting; Other: chromatography

Detailed Description

OBJECTIVES:

• 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
• Enrollment (Actual): 213

Contacts and Locations

Study Locations

• United States
  • Oregon
    • Portland, Oregon, United States, 97239-3098
      • Knight Cancer Institute At Oregon Health and Science University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 55 years (ADULT, CHILD)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• 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.

Description

DISEASE CHARACTERISTICS:

• 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)

PATIENT CHARACTERISTICS:

• 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

PRIOR CONCURRENT THERAPY:

• Not specified

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Loss of function analyses	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	Duration of the study
Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins	Duration of the study
Microsequencing of unique proteins	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	Duration of the study
Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood	Duration of the study
Identification of functional defects in Fanconi anemia hematopoietic stromal cells	Duration of the study

Collaborators and Investigators

• Sponsor: OHSU Knight Cancer Institute
• Collaborators: National Heart, Lung, and Blood Institute (NHLBI)
• Investigators: Principal Investigator: Laura Newell, MD, OHSU Knight Cancer Institute

Study record dates

Study Major Dates

• Study Start: June 1, 1975
• Primary Completion (ACTUAL): August 23, 2016
• Study Completion (ACTUAL): August 23, 2016

Study Registration Dates

• First Submitted: May 9, 2009
• First Submitted That Met QC Criteria: May 9, 2009
• First Posted (ESTIMATE): May 12, 2009

Study Record Updates

• Last Update Posted (ACTUAL): July 5, 2022
• Last Update Submitted That Met QC Criteria: June 30, 2022
• Last Verified: June 1, 2022

More Information

Terms related to this study

• Keywords: Fanconi anemia; multiple myeloma and other plasma cell neoplasms; chronic myeloproliferative disorders; myelodysplastic/myeloproliferative neoplasms
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Immune System Diseases; Neoplasms by Histologic Type; Lymphoproliferative Disorders; Immunoproliferative Disorders; Kidney Diseases; Urologic Diseases; Bone Marrow Diseases; Hematologic Diseases; Hemorrhagic Disorders; Genetic Diseases, Inborn; Hemostatic Disorders; Paraproteinemias; Blood Protein Disorders; DNA Repair-Deficiency Disorders; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Renal Tubular Transport, Inborn Errors; Neoplasms; Multiple Myeloma; Neoplasms, Plasma Cell; Anemia; Fanconi Syndrome; Fanconi Anemia; Plasmacytoma; Myeloproliferative Disorders; Myelodysplastic-Myeloproliferative Diseases
• Other Study ID Numbers: IRB00000823; P01HL048546 (NIH); OHSU-HEM-98030-L