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

Completed

• Conditions: Myeloproliferative Disorder; MDS; AML

• Registration Number: NCT00687414
• Lead Sponsor: Spectrum Health Hospitals

Brief Summary

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.

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.

Study Timeline

• Study Start: 2008-04
• Study First Submitted: 2008-05-27
• Study First Submitted QC: 2008-05-29
• Study First Posted: 2008-05-30
• Primary Completion: 2009-12
• Study Completion: 2010-01
• Status Verified: 2023-07
• Last Update Submitted: 2023-07-26
• Last Update Posted: 2023-07-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 60

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:

inclusion:

• healthy men and women
• ≥ 55 years of age

exclusion:

• history of hematological condition
• history of cancer

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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	within a year

Trial Locations

Locations (2)

St Mary's Health Care; 🇺🇸 Grand Rapids, Michigan, United States

Van Andel Research Institute; 🇺🇸 Grand Rapids, Michigan, United States