Familial Myeloproliferative Disorders

Status:	Recruiting
Conditions:	Cancer, Hematology
Therapuetic Areas:	Hematology, Oncology
Healthy:	No
Age Range:	7 - Any
Updated:	7/28/2016
Start Date:	March 2008
End Date:	June 2017
Contact:	Josef Prachal, MD
Email:	Josef.prchal@hsc.utah.edu
Phone:	(801) 585-3229

Molecular Biology of 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.

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.

We found this trial at

sites

University of Florence

Florence, 50132

Principal Investigator: Alessandro Vannucchi, MD

from

Florence,