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Completed

NCT Number: NCT00666289

Familial Myeloproliferative Disorders

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.

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Key information

Conditions

Polycythemia Vera Blood Coagulation Disorders Blood Platelet Disorders Bone Marrow Diseases Bone Marrow Neoplasms Essential Thrombocythemia Hematologic Diseases Hematologic Neoplasms Hemic and Lymphatic Diseases Hemorrhagic Disorders Idiopathic Myelofibrosis Myeloproliferative Disorders Neoplasms Neoplasms by Site Primary Myelofibrosis Thrombocythemia, Essential Thrombocytosis

Age range

7 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Florence, Florence, Italy

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

Icahn School of Medicine at Mount Sinai

Other

Collaborators

  • Myeloproliferative Disorders-Research Consortium
  • National Cancer Institute (NCI)

Registry information

Official study title

Molecular Biology of Familial Myeloproliferative Disorders

Important dates

Study start
2008
Primary completion
2015
Study completion
2015
First posted
Apr 24, 2008
Registry last updated
Sep 5, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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