Clinical trial NCT00900055: Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
Official title: Dysregulation of Hematopoiesis in Fanconi Anemia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Chronic Myeloproliferative Disorders
Fanconi Anemia
Multiple Myeloma and Plasma Cell Neoplasm
Myelodysplastic/Myeloproliferative Neoplasms
Keywords: Fanconi anemia
multiple myeloma and other plasma cell neoplasms
chronic myeloproliferative disorders
myelodysplastic/myeloproliferative neoplasms
Lead sponsor: OHSU Knight Cancer Institute
Sponsor class: OTHER
Collaborators: name: National Heart, Lung, and Blood Institute (NHLBI)
First posted: 2009-05-12
Enrollment: 213
Sex: ALL
Minimum age (years): 1
Maximum age (years): 55
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Loss of function analyses
timeFrame: Duration of the study
measure: Proteins binding to Fanconi anemia, complementation group C (FACC) gene-product by affinity chromatography of nuclear and whole cell lysates of normal cells
timeFrame: Duration of the study
measure: Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins
timeFrame: Duration of the study
measure: Microsequencing of unique proteins
timeFrame: Duration of the study
measure: 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
timeFrame: Duration of the study
measure: Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood
timeFrame: Duration of the study
measure: Identification of functional defects in Fanconi anemia hematopoietic stromal cells
timeFrame: Duration of the study
Secondary outcomes:
Other outcomes:
Locations:
city: Portland
country: United States
facility: Knight Cancer Institute at Oregon Health and Science University
state: Oregon
Study officials:
affiliation: OHSU Knight Cancer Institute
name: Laura Newell, MD
role: PRINCIPAL_INVESTIGATOR
References: