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Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
Myeloproliferative Disorders-Research Consortium
National Cancer Institute (NCI)
Information provided by (Responsible Party):
University of Utah
ClinicalTrials.gov Identifier:
NCT00715247
First received: July 11, 2008
Last updated: June 8, 2012
Last verified: June 2012
History of Changes
  Purpose

The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.


Condition
Polycythemia Vera
Essential Thrombocythemia
Myelofibrosis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by University of Utah:

Primary Outcome Measures:
  • Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis. [ Time Frame: Weekly ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • To determine if there are proteins expressed by cells from patients that might be targets for the immune response. [ Time Frame: Weekly ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Whole blood and bone marrow aspirate


Estimated Enrollment: 700
Study Start Date: July 2006
Estimated Study Completion Date: March 2015
Estimated Primary Completion Date: March 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
Affected Population
Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia.
Healthy Female Controls
Healthy females who do not have the blood disorders; Polycythemia Vera, Essential Thrombocythemia and/or Myelofibrosis.

Detailed Description:

Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF), also known as the Philadelphia Chromosome negative myeloproliferative disorders (MPDs), are not congenital, but acquired. The purpose of this project is to find genes whose mutations cause these disorders, as well as improve diagnostic measures for these diseases. When this is accomplished new therapies to control and eventually cure the disease can be designed.

All subjects will be asked to donate 4-6 teaspoons of blood. On occasion, if the blood cells from a particular sample do not grow well and the DNA from that sample is used up or other tests are needed, we may ask to collect additional samples. In patients who have undergone a bone marrow biopsy as part of their clinical evaluation, we will test the reproducibility between pathologists for the revised 2008 WHO diagnostic criteria to diagnose myeloproliferative disorders (MPD).

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia.

Criteria

Inclusion Criteria:

  1. Patients with an elevated hemoglobin concentration (>18 in males and >16 in females) and who are suspected to have congenital or acquired primary polycythemia
  2. Patients with a persistent thrombocytosis (>400,000) that does not have an obvious secondary cause
  3. Patients with a bone marrow biopsy that shows increased cellularity and fibrosis
  4. Patients where there is clinical concern for primary myelofibrosis, such as anemia in combination with leukocytosis, thrombocytosis, splenomegaly and/or a leukoerythroblastic blood smear
  5. Patients with thrombosis at unusual sites, such as Budd-Chiari syndrome, can have early PV before hemoglobin is elevated, these patients will also be included.

Exclusion Criteria:

  1. 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 or severe pulmonary disease will be excluded from this study.
  2. Subjects with a known acquired cause of thrombocytosis.
  3. Subjects will be excluded if they cannot demonstrate decision making capacity sufficient to agree or decline the blood drawing or use of their blood for the study.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00715247

Locations
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84132
Sponsors and Collaborators
University of Utah
Myeloproliferative Disorders-Research Consortium
National Cancer Institute (NCI)
Investigators
Principal Investigator: Josef T Prchal, MD University of Utah
  More Information

Additional Information:
Myeloproliferative Disorders Research Consortium  This link exits the ClinicalTrials.gov site

Publications:

Responsible Party: University of Utah
ClinicalTrials.gov Identifier: NCT00715247     History of Changes
Other Study ID Numbers: 17793, 1P01CA10867101A2
Study First Received: July 11, 2008
Last Updated: June 8, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by University of Utah:
Myeloproliferative Disorders
Hematological Malignancies
Polycythemia Vera
Essential Thrombocythemia
 Myelofibrosis
Genetics
Chronic Leukemia

Additional relevant MeSH terms:
Primary Myelofibrosis
Polycythemia
Polycythemia Vera
Thrombocythemia, Essential
Thrombocytosis
Myeloproliferative Disorders
 Bone Marrow Diseases
Hematologic Diseases
Blood Coagulation Disorders
Blood Platelet Disorders
Hemorrhagic Disorders

ClinicalTrials.gov processed this record on June 18, 2013