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Evaluation of Formin Gene Status and Expression in Myeloproliferative and Myelodysplastic Disorders

This study has been completed.
Van Andel Research Institute
Community Foundation for Southeast Michigan (JP McCarthy Fund)
Information provided by:
Spectrum Health Hospitals Identifier:
First received: May 27, 2008
Last updated: January 8, 2010
Last verified: January 2010
Aim of the study is to analyze the expression of genes and sequences encoding the human mammalian diaphanous (mDia) related formin proteins to test the hypothesis that defects in the mDia expression or function might drive the pathophysiology of myelodysplastic syndrome, acute myeloid leukemia and other myeloproliferative diseases.

Myeloproliferative Disorder

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Evaluation of Formin Gene Status and Expression in Myeloproliferative and Myelodysplastic Disorders

Resource links provided by NLM:

Further study details as provided by Spectrum Health Hospitals:

Primary Outcome Measures:
  • to determine if defective DRF1 expression or mDia1 function may contribute to myeloid malignancies and point to mDia1 as an attractive therapeutic target in MDS and MPS [ Time Frame: within a year ]

Biospecimen Retention:   Samples With DNA
peripheral blood

Estimated Enrollment: 60
Study Start Date: April 2008
Study Completion Date: January 2010
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
male and female with MDS and MPD and AML
Healthy control group

Detailed Description:

Leukocytes and myeloid lineage cells from these specimens will be assayed for expression of DRF genes using standard molecular biological approaches to measure mRNA levels. Extracted DNA will be analyzed for mutations that affect expressions or function using direct sequencing techniques.

Alternatively, expression of DRF gene products (mDia proteins) will be assessed using specific antibodies and flow cytometry. Molecular findings resulting from these assays will be correlated with clinical information recorded in specimen logbook.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Community sample

Inclusion Criteria:

  • 18 and over
  • Male
  • Female
  • Diagnosed with MDS, MPD and AML

Exclusion Criteria:

  • Under the age of 18
  • Received bone marrow transplant

Control Group Criteria:


  • healthy men and women
  • ≥ 55 years of age


  • history of hematological condition
  • history of cancer
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00687414

United States, Michigan
St Mary's Health Care
Grand Rapids, Michigan, United States, 49503
Van Andel Research Institute
Grand Rapids, Michigan, United States, 49503
Sponsors and Collaborators
Spectrum Health Hospitals
Van Andel Research Institute
Community Foundation for Southeast Michigan (JP McCarthy Fund)
Principal Investigator: Arthur S Alberts, PhD Van Andel Research Institute
  More Information

Responsible Party: Arthur S. Alberts, Ph.D., Van Andel Research Institute Identifier: NCT00687414     History of Changes
Other Study ID Numbers: 2008-054 Protocol # 080311 AA
Study First Received: May 27, 2008
Last Updated: January 8, 2010

Keywords provided by Spectrum Health Hospitals:
gene expression
gene sequencing
gene encoding

Additional relevant MeSH terms:
Myeloproliferative Disorders
Pathologic Processes
Bone Marrow Diseases
Hematologic Diseases processed this record on April 26, 2017