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

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2016 by University of Utah
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: October 5, 2016
Last verified: October 2016

July 11, 2008
October 5, 2016
July 2006
July 2020   (final data collection date for primary outcome measure)
Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis. [ Time Frame: Weekly ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00715247 on ClinicalTrials.gov Archive Site
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 ]
  • 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 ]
  • To discover if some patients with PV/ET have a small population of cells called Paroxysmal Nocturnal Hemoglobinuria (PNH) cells. [ Time Frame: Monthly ] [ Designated as safety issue: No ]
  • Investigate if in elderly females hematopoiesis may appear clonal. We will look for clonality in "healthy" elderly females (> 65 yrs old) and compare that with healthy females less than 50 years old. [ Time Frame: Weekly ] [ Designated as safety issue: No ]
Not Provided
Not Provided
 
Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes
Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes
The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.

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).

Observational
Observational Model: Case Control
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
Whole blood and bone marrow aspirate
Non-Probability Sample
Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia.
  • Polycythemia Vera
  • Essential Thrombocythemia
  • Myelofibrosis
Not Provided
  • 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
700
July 2020
July 2020   (final data collection date for primary outcome measure)

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.
Both
Child, Adult, Senior
Yes
Contact: Josef T Prchal, MD 801-581-4220 josef.prchal@hsc.utah.edu
Contact: Kim Hickman, BS 801-581-3707 kimberly.hickman@hsc.utah.edu
United States
 
NCT00715247
17793, 1P01CA10867101A2
No
Not Provided
Not Provided
University of Utah
University of Utah
  • Myeloproliferative Disorders-Research Consortium
  • National Cancer Institute (NCI)
Principal Investigator: Josef T Prchal, MD University of Utah
University of Utah
October 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP