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

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

Study Overview

• Status: Unknown
• Conditions: 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
• Enrollment (Anticipated): 75

Contacts and Locations

Study Locations

• Israel
  • Hadera, Israel, 38100
    • Hillel Yaffe Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 45 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Female hospital patients

Description

Inclusion Criteria:

• Consenting women who have had full-term birth

Exclusion Criteria:

• Systemic disease

Study Plan

How is the study designed?

Design Details

• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Umbilical cord blood

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Performance of expression arrays on transfected CD34+ cells	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.	One year

Collaborators and Investigators

• Sponsor: Hillel Yaffe Medical Center
• Collaborators: Weizmann Institute of Science

Study record dates

Study Major Dates

• Study Start: April 1, 2011
• Primary Completion (Anticipated): April 1, 2012
• Study Completion (Anticipated): April 1, 2013

Study Registration Dates

• First Submitted: March 10, 2011
• First Submitted That Met QC Criteria: April 5, 2011
• First Posted (Estimate): April 6, 2011

Study Record Updates

• Last Update Posted (Estimate): April 6, 2011
• Last Update Submitted That Met QC Criteria: April 5, 2011
• Last Verified: April 1, 2011

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms by Histologic Type; Neoplasms; Leukemia; Leukemia, Myeloid; Leukemia, Myeloid, Acute
• Other Study ID Numbers: HYMC-16-2011

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No