Familial Myeloproliferative Disorders

The recruitment status of this study is unknown because the information has not been verified recently.
Verified September 2012 by Myeloproliferative Disorders-Research Consortium.
Recruitment status was  Recruiting
Information provided by (Responsible Party):
Myeloproliferative Disorders-Research Consortium
ClinicalTrials.gov Identifier:
First received: April 22, 2008
Last updated: September 9, 2012
Last verified: September 2012

Myeloproliferative disorders occur in families, thus giving rise to the theory that it is a genetic disease that may be caused by an abnormal gene in the DNA that can be passed from one generation of family members to another. DNA can be gathered from family members through blood samples and the investigators will investigate (through DNA testing) to see if there are abnormal genes that may be responsible for causing the MPDs. Understanding which genes are responsible for causing MPDs can help develop ways to identify people who may be at risk for developing an MPD, allow for the development of better treatments, possibly a cure, or even prevent the development of MPDs.

Polycythemia Vera
Essential Thrombocythemia
Idiopathic Myelofibrosis

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Molecular Biology of Familial Myeloproliferative Disorders

Resource links provided by NLM:

Further study details as provided by Myeloproliferative Disorders-Research Consortium:

Primary Outcome Measures:
  • To determine a linkage from the DNA analyzed to find a gene that will allow for genetic evaluation of families with MPDs. [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Blood samples from subjects and family members with myeloproliferative disease.

Estimated Enrollment: 200
Study Start Date: March 2008
Estimated Study Completion Date: March 2013
Estimated Primary Completion Date: December 2012 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   7 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

families with multiple member diagnosed with myeloproliferative disease


Inclusion Criteria:

  • Subjects with polycythemia vera, essential thrombocythemia or idiopathic myelofibrosis who meet the diagnostic criteria established by the World Health Organization.
  • Family members of subjects suspected of having polycythemia vera, essential thrombocythemia or idiopathic myelofibrosis.
  • Subject or family members must be 7 years of age or older
  • A written assent, parental permission or consent must be obtained prior to any study procedures being performed.

Exclusion Criteria:

  • Subjects who have a known acquired cause of polycythemia (increased hemoglobin/hematocrit), such as people living in high altitudes (in excess of 14,000 feet), subjects with heart disease, left to right heart shunt, severe hypoxia, cyanotic congenital heart disease, or severe pulmonary disease, will be excluded from this study, secondary forms of thrombocytosis and secondary forms of myelofibrosis.
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00666289

Contact: Josef Prachal, MD (801) 585-3229 Josef.prchal@hsc.utah.edu
Contact: Neeraj Agarwal, MD (801) 585-3229

United States, District of Columbia
Georgetown University Recruiting
Washington, District of Columbia, United States, 20057
Principal Investigator: Craig Kessler, MD         
United States, Illinois
University of Illinois at Chicago Recruiting
Chicago, Illinois, United States, 60612
Principal Investigator: Damiano Rondelli, MD         
United States, New York
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Principal Investigator: Ronald Hoffman, MD         
Weill Cornell Recruiting
New York, New York, United States, 10065
Contact: Richard Silver, MD    877-267-6355      
Principal Investigator: Richard Silver, MD         
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84102
Principal Investigator: Josef Prachal, MD         
University of Florence Recruiting
Florence, Italy
Principal Investigator: Alessandro Vannucchi, MD         
Sponsors and Collaborators
Myeloproliferative Disorders-Research Consortium
Study Chair: Josef Prachal, MD Myeloproliferative Disorders-Research Consortium
  More Information

No publications provided

Responsible Party: Myeloproliferative Disorders-Research Consortium
ClinicalTrials.gov Identifier: NCT00666289     History of Changes
Other Study ID Numbers: MPD-RC 105, P01 Ca 108671-01A2
Study First Received: April 22, 2008
Last Updated: September 9, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Myeloproliferative Disorders-Research Consortium:
polycythemia vera
essential thrombocythemia
idiopathic myelofibrosis
family clusters

Additional relevant MeSH terms:
Myeloproliferative Disorders
Polycythemia Vera
Primary Myelofibrosis
Thrombocythemia, Essential
Blood Coagulation Disorders
Blood Platelet Disorders
Bone Marrow Diseases
Hematologic Diseases
Hemorrhagic Disorders

ClinicalTrials.gov processed this record on March 26, 2015