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Familial Myeloproliferative Disorders

This study has been completed.
Myeloproliferative Disorders-Research Consortium
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Icahn School of Medicine at Mount Sinai Identifier:
First received: April 22, 2008
Last updated: September 1, 2017
Last verified: September 2017
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
Time Perspective: Other
Official Title: Molecular Biology of Familial Myeloproliferative Disorders

Resource links provided by NLM:

Further study details as provided by Icahn School of Medicine at Mount Sinai:

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 ]

Biospecimen Retention:   Samples With DNA
Blood samples from subjects and family members with myeloproliferative disease.

Enrollment: 17
Study Start Date: March 2008
Study Completion Date: June 20, 2015
Primary Completion Date: January 20, 2015 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   7 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
families with multiple member diagnosed with myeloproliferative disease

Inclusion Criteria:

  • Families with 2 or more members diagnosed with polycythemia vera (PV), essential thrombocythemia (ET), PV and ET related myelofibrosis (PV-MF and ET-MF), idiopathic myelofibrosis (IM) or chronic myelogenous leukemia (CML).
  • Healthy family members of subjects diagnosed with a myeloproliferative neoplasm (MPN).
  • Participating subjects 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
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: NCT00666289

United States, District of Columbia
Georgetown University
Washington, D.C., District of Columbia, United States, 20057
United States, Illinois
University of Illinois at Chicago
Chicago, Illinois, United States, 60612
United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
Weill Cornell
New York, New York, United States, 10065
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84102
University of Florence
Florence, Italy
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
Myeloproliferative Disorders-Research Consortium
National Cancer Institute (NCI)
Study Chair: Josef Prachal, MD Myeloproliferative Disorders-Research Consortium
  More Information

Responsible Party: Icahn School of Medicine at Mount Sinai Identifier: NCT00666289     History of Changes
Other Study ID Numbers: GCO 07-0548-00105
P01CA108671-01A2 ( U.S. NIH Grant/Contract )
MPD-RC 105 ( Other Identifier: Myeloproliferative Disorders-Research Consortium )
Study First Received: April 22, 2008
Last Updated: September 1, 2017

Keywords provided by Icahn School of Medicine at Mount Sinai:
polycythemia vera
essential thrombocythemia
idiopathic myelofibrosis
family clusters

Additional relevant MeSH terms:
Primary Myelofibrosis
Polycythemia Vera
Thrombocythemia, Essential
Myeloproliferative Disorders
Bone Marrow Diseases
Hematologic Diseases
Blood Platelet Disorders
Blood Coagulation Disorders
Hemorrhagic Disorders processed this record on September 20, 2017