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Completed

NCT Number: NCT00900055

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

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.

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Key information

Conditions

Chronic Myeloproliferative Disorders Anemia Anemia, Aplastic Anemia, Hypoplastic, Congenital Blood Protein Disorders Bone Marrow Diseases Bone Marrow Failure Disorders Cardiovascular Diseases Congenital Bone Marrow Failure Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Fanconi Anemia Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Immune System Diseases Immunoproliferative Disorders Lymphoproliferative Disorders Metabolic Diseases Multiple Myeloma Multiple Myeloma and Plasma Cell Neoplasm Myelodysplastic-Myeloproliferative Diseases Myelodysplastic/Myeloproliferative Neoplasms Myeloproliferative Disorders Neoplasms Neoplasms by Histologic Type Neoplasms, Plasma Cell Nutritional and Metabolic Diseases Paraproteinemias Vascular Diseases

Age range

1 year–55 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Knight Cancer Institute at Oregon Health and Science University

Portland, Oregon, 97239-3098, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

microarray analysis

Genetic

polyacrylamide gel electrophoresis

Genetic

polymerase chain reaction

Genetic

protein expression analysis

Genetic

reverse transcriptase-polymerase chain reaction

Genetic

western blotting

Genetic

chromatography

Other

high performance liquid chromatography

Other

immunoenzyme technique

Other

Primary outcomes

  1. Loss of function analyses

    Time frame: Duration of the study

  2. 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

  3. 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

  4. Microsequencing of unique proteins

    Time frame: Duration of the study

  5. 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

  6. Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood

    Time frame: Duration of the study

  7. Identification of functional defects in Fanconi anemia hematopoietic stromal cells

    Time frame: Duration of the study

Sponsors and collaborators

Lead sponsor

OHSU Knight Cancer Institute

Other

Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

Registry information

Official study title

Dysregulation of Hematopoiesis in Fanconi Anemia

Important dates

Study start
1975
Primary completion
2016
Study completion
2016
First posted
May 12, 2009
Registry last updated
Jul 5, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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