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

Multiple Myeloma and Plasma Cell Neoplasm Clinical Trial

Official title:

Dysregulation of Hematopoiesis in Fanconi Anemia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00900055
• Other study ID #: IRB00000823
• Secondary ID: P01HL048546OHSU-
• Status: Completed
• Start date: June 1975
• Est. completion date: August 23, 2016

Study information

• Verified date: June 2022
• Source: OHSU Knight Cancer Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 213
• Est. completion date: August 23, 2016
• Est. primary completion date: August 23, 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 1 Year to 55 Years

Eligibility

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

Related Conditions & MeSH terms

• Anemia
• Chronic Myeloproliferative Disorders
• Fanconi Anemia
• Fanconi Syndrome
• Multiple Myeloma
• Multiple Myeloma and Plasma Cell Neoplasm
• Myelodysplastic-Myeloproliferative Diseases
• Myelodysplastic/Myeloproliferative Neoplasms
• Myeloproliferative Disorders
• Neoplasms
• Neoplasms, Plasma Cell
• Plasmacytoma

Intervention

Genetic:
• microarray analysis

• polyacrylamide gel electrophoresis

• polymerase chain reaction

• protein expression analysis

• reverse transcriptase-polymerase chain reaction

• western blotting

Other:
• chromatography

• high performance liquid chromatography

• immunoenzyme technique

Locations

Country	Name	City	State
United States	Knight Cancer Institute at Oregon Health and Science University	Portland	Oregon

Sponsors (2)

Lead Sponsor	Collaborator
OHSU Knight Cancer Institute	National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

Outcome

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