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

NCT ID: NCT01329471

Last Updated: 2011-04-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

75 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-04-30

Study Completion Date

2013-04-30

Brief Summary

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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

Detailed Description

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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.

Conditions

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Acute Myeloid Leukemia

Study Design

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Study Time Perspective

PROSPECTIVE

Study Groups

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Umbilical cord blood

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Consenting women who have had full-term birth

Exclusion Criteria

* Systemic disease
Minimum Eligible Age

18 Years

Maximum Eligible Age

45 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Weizmann Institute of Science

OTHER

Sponsor Role collaborator

Hillel Yaffe Medical Center

OTHER_GOV

Sponsor Role lead

Responsible Party

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Hillel Yaffe Medical Center

Locations

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Hillel Yaffe Medical Center

Hadera, , Israel

Site Status

Countries

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Israel

Facility Contacts

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Ofer Fainaru, MD, PhD

Role: primary

Other Identifiers

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HYMC-16-2011

Identifier Type: -

Identifier Source: org_study_id

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