Functional Role of RUNX1 Mutations in the Etiology of Acute Myeloid Leukemia (AML)
Recruitment status was Not yet recruiting
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
Acute Myeloid Leukemia
|Study Design:||Time Perspective: Prospective|
- Performance of expression arrays on transfected CD34+ cells [ Time Frame: One year ] [ Designated as safety issue: No ]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.
|Study Start Date:||April 2011|
|Estimated Study Completion Date:||April 2013|
|Estimated Primary Completion Date:||April 2012 (Final data collection date for primary outcome measure)|
|Umbilical cord blood|
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.
|Hillel Yaffe Medical Center||Not yet recruiting|
|Hadera, Israel, 38100|
|Contact: Ofer Fainaru, MD, PhD firstname.lastname@example.org|