Clinical trial NCT00666289: Familial Myeloproliferative Disorders
Official title: Molecular Biology of Familial Myeloproliferative Disorders
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Polycythemia Vera
Essential Thrombocythemia
Idiopathic Myelofibrosis
Keywords: polycythemia vera
essential thrombocythemia
idiopathic myelofibrosis
family clusters
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
Collaborators: name: Myeloproliferative Disorders-Research Consortium
name: National Cancer Institute (NCI)
First posted: 2008-04-24
Enrollment: 17
Sex: ALL
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: families with multiple member diagnosed with myeloproliferative disease

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
measure: To determine a linkage from the DNA analyzed to find a gene that will allow for genetic evaluation of families with MPDs.
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Washington, D.C.
country: United States
facility: Georgetown University
state: District of Columbia
city: Chicago
country: United States
facility: University of Illinois at Chicago
state: Illinois
city: New York
country: United States
facility: Mount Sinai School of Medicine
state: New York
city: New York
country: United States
facility: Weill Cornell
state: New York
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
city: Florence
country: Italy
facility: University of Florence
Study officials:
affiliation: Myeloproliferative Disorders-Research Consortium
name: Josef Prachal, MD
role: STUDY_CHAIR
References: