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

NCT00900055 | Completed

• 3 other identifiers: IRB00000823P01HL048546OHSU-HEM-98030-L
• Study Type: observational
• Target: 213
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (7)

• 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

Interventions

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

Eligibility Criteria

• Age: 1 Year - 55 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• 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.

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• OHSU Knight Cancer Institute: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (1)

Knight Cancer Institute at Oregon Health and Science University

Portland, Oregon, 97239-3098, United States

Location

MeSH Terms

Conditions

Myeloproliferative Disorders; Fanconi Anemia; Multiple Myeloma; Neoplasms, Plasma Cell; Myelodysplastic-Myeloproliferative Diseases

Interventions

Microarray Analysis; Electrophoresis, Polyacrylamide Gel; Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Blotting, Western; Chromatography; Chromatography, High Pressure Liquid; Immunoenzyme Techniques

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Neoplasms by Histologic Type; Neoplasms; Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Paraproteinemias; Blood Protein Disorders; Hemorrhagic Disorders; Lymphoproliferative Disorders; Immunoproliferative Disorders; Immune System Diseases

Intervention Hierarchy (Ancestors)

Microchip Analytical Procedures; Investigative Techniques; Electrophoresis; Chemistry Techniques, Analytical; Electrochemical Techniques; Nucleic Acid Amplification Techniques; Genetic Techniques; Immunoblotting; Immunoassay; Immunologic Techniques; Molecular Probe Techniques; Chromatography, Liquid; Immunohistochemistry

Study Officials

• Laura Newell, MD

  OHSU Knight Cancer Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: May 9, 2009
• First Posted: May 12, 2009
• Study Start: June 1, 1975
• Primary Completion: August 23, 2016
• Study Completion: August 23, 2016
• Last Updated: July 5, 2022

Record last verified: 2022-06

Locations

US (1)