Familial Myeloproliferative Disorders

September 1, 2017 updated by: Icahn School of Medicine at Mount Sinai

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Italy
- - Florence, Italy
    - University of Florence
United States
- District of Columbia
  - Washington, D.C., District of Columbia, United States, 20057
    - Georgetown University
- Illinois
  - Chicago, Illinois, United States, 60612
    - University of Illinois at Chicago
- New York
  - New York, New York, United States, 10029
    - Mount Sinai School of Medicine
  - New York, New York, United States, 10065
    - Weill Cornell
- Utah
  - Salt Lake City, Utah, United States, 84102
    - University of Utah

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

7 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

families with multiple member diagnosed with myeloproliferative disease

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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	3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Icahn School of Medicine at Mount Sinai

Collaborators

National Cancer Institute (NCI)

Myeloproliferative Disorders-Research Consortium

Investigators

Study Chair: Josef Prachal, MD, Myeloproliferative Disorders-Research Consortium

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2008

Primary Completion (Actual)

January 20, 2015

Study Completion (Actual)

June 20, 2015

Study Registration Dates

First Submitted

April 22, 2008

First Submitted That Met QC Criteria

April 23, 2008

First Posted (Estimate)

April 24, 2008

Study Record Updates

Last Update Posted (Actual)

September 5, 2017

Last Update Submitted That Met QC Criteria

September 1, 2017

Last Verified