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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01329471
Recruitment Status : Unknown
Verified April 2011 by Hillel Yaffe Medical Center.
Recruitment status was:  Not yet recruiting
First Posted : April 6, 2011
Last Update Posted : April 6, 2011
Weizmann Institute of Science
Information provided by:
Hillel Yaffe Medical Center

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
Acute Myeloid Leukemia

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 Type : Observational
Estimated Enrollment : 75 participants
Time Perspective: Prospective
Study Start Date : April 2011
Estimated Primary Completion Date : April 2012
Estimated Study Completion Date : April 2013

Umbilical cord blood

Primary Outcome Measures :
  1. Performance of expression arrays on transfected CD34+ cells [ Time Frame: 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.

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Ages Eligible for Study:   18 Years to 45 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Female hospital patients

Inclusion Criteria:

  • Consenting women who have had full-term birth

Exclusion Criteria:

  • Systemic disease

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01329471

Hillel Yaffe Medical Center Not yet recruiting
Hadera, Israel, 38100
Contact: Ofer Fainaru, MD, PhD   
Sponsors and Collaborators
Hillel Yaffe Medical Center
Weizmann Institute of Science

Responsible Party: Dr. Ofer Fainaru, Hillel Yaffe Medical Center Identifier: NCT01329471     History of Changes
Other Study ID Numbers: HYMC-16-2011
First Posted: April 6, 2011    Key Record Dates
Last Update Posted: April 6, 2011
Last Verified: April 2011

Additional relevant MeSH terms:
Leukemia, Myeloid
Leukemia, Myeloid, Acute
Neoplasms by Histologic Type