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Functional Role of RUNX1 Mutations in the Etiology of Acute Myeloid Leukemia (AML)

Sponsor
Hillel Yaffe Medical Center (Other)
Overall Status
Unknown status
CT.gov ID
NCT01329471
Collaborator
Weizmann Institute of Science (Other)
75
Enrollment
1
Location
24
Duration (Months)
3.1
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this study is to elucidate the role of RUNX1 in Acute Myeloid Leukemia (AML), in particular, the transcriptional regulation of genes by mutated forms of this protein. This research will study the effect of mutations found in AML patients

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    The RUNX1 gene, located at chromosomal band 21q22, is a transcription factor, crucial for hematopoiesis and the generation of hematopoietic stem cells in the embryo. RUNX1 is the most frequent target for chromosomal translocation in leukemia. In addition, point mutations in the RUNX1 gene have been found to constitute an important mode of genetic alteration in development of leukemia. Recent publications stressing the clinical need for implementing RUNX1 point mutations as both a diagnostic and unfavorable prognostic marker of AML, have aroused particular interest in the functional role of RUNX1 in this disease.

    In order to pinpoint specific RUNX1 target genes involved in pre-leukemic transformation or exacerbation of existing leukemia, the investigators plan to compare expression profiles from human hematopoietic progenitors overexpressing a mutated form of RUNX1with controls (RUNX1 wild-type and knocked-down). In this study the investigators intend to collect blood, after receiving informed consent, from umbilical cords of neonates born vaginally, in order to isolate CD34+ hematopoietic progenitors. Human umbilical cord blood contains relatively high numbers of CD34+ cells, which may be frozen directly after collection and used as a source of progenitor cells for further culture or direct analysis.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    75 participants
    Time Perspective:
    Prospective
    Study Start Date :
    Apr 1, 2011
    Anticipated Primary Completion Date :
    Apr 1, 2012
    Anticipated Study Completion Date :
    Apr 1, 2013

    Arms and Interventions

    Arm Intervention/Treatment
    Umbilical cord blood

    Outcome Measures

    Primary Outcome Measures

    1. Performance of expression arrays on transfected CD34+ cells [One year]

      Performance of expression arrays on transfected CD34+ cells (derived from human cord blood), expecting differential gene expression between the wild type RUNX1-transfected cells and mutated RUNX1-transfected cells.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years to 45 Years
    Sexes Eligible for Study:
    Female
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:
    • Consenting women who have had full-term birth
    Exclusion Criteria:
    • Systemic disease

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Hillel Yaffe Medical Center Hadera Israel 38100

    Sponsors and Collaborators

    • Hillel Yaffe Medical Center
    • Weizmann Institute of Science

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    , ,
    ClinicalTrials.gov Identifier:
    NCT01329471
    Other Study ID Numbers:
    • HYMC-16-2011
    First Posted:
    Apr 6, 2011
    Last Update Posted:
    Apr 6, 2011
    Last Verified:
    Apr 1, 2011
    Additional relevant MeSH terms:
    Leukemia
    Leukemia, Myeloid
    Leukemia, Myeloid, Acute

    Study Results

    No Results Posted as of Apr 6, 2011