Familial Myeloproliferative Disorders

Completed

Conditions studied: Polycythemia Vera, Essential Thrombocythemia, Idiopathic Myelofibrosis

In brief

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.

Key facts

Study ID

NCT00666289

Run by

Icahn School of Medicine at Mount Sinai

People needed

17

Starts

2008-03-01

Expected to finish

2015-06-20

Last updated by the study team

2017-09-05

Who can join

Age: 7 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• Georgetown University — Washington D.C., District of Columbia, United States
• University of Illinois at Chicago — Chicago, Illinois, United States
• Mount Sinai School of Medicine — New York, New York, United States
• Weill Cornell — New York, New York, United States
• University of Utah — Salt Lake City, Utah, United States
• University of Florence — Florence, Italy

Full record on ClinicalTrials.gov

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