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Molecular Biology of Polycythemia and Thrombocytosis

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2016 by University of Utah
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Utah Identifier:
First received: July 23, 2008
Last updated: October 5, 2016
Last verified: October 2016
Our study is designed to characterize the clinical picture and genetic pattern of Polycythemia and Thrombocytosis. The purpose of this project is to find a gene and its mutation that causes these disorders. When this is accomplished, new therapies to control and eventually cure the disorder can be designed.


Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Molecular Biology of Polycythemia and Thrombocytosis

Resource links provided by NLM:

Further study details as provided by University of Utah:

Primary Outcome Measures:
  • Identify the molecular defect of Polycythemic and Thrombocythemic disorders [ Time Frame: Weekly ]

Biospecimen Retention:   Samples With DNA
Whole blood

Estimated Enrollment: 200
Study Start Date: July 2006
Estimated Study Completion Date: July 2020
Estimated Primary Completion Date: July 2020 (Final data collection date for primary outcome measure)
Affected Population
Subjects with an elevated hemoglobin concentration or an elevated platelet count

Detailed Description:

Our hypothesis is that genes and their mutation are causative of certain types of polycythemia and thrombocytosis. These will be sought for by genetic and cell biology means. The purpose of the study is to identify the molecular defect of these disorders.

5-7 teaspoons of peripheral blood will be drawn on all study subjects. After DNA is obtained, linkage analysis and/or mutation analysis will be performed.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects who have polycythemia and thrombocytosis will be included in the study.

Inclusion Criteria:

  1. Subjects with an elevated hemoglobin concentration (>18 in males and >16 in females)
  2. Subjects with an elevated platelet count (>450,000)

Exclusion Criteria:

  1. Subjects who have a known acquired cause of polycythemia and thrombocytosis
  2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00722527

Contact: Josef T Prchal, MD 801-581-4220
Contact: Kim Hickman, BS 801-581-3707

United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84132
Contact: Josef T Prchal, MD    801-581-4220   
Contact: Kim Hickman, BS    801-581-3707   
Principal Investigator: Josef T Prchal, MD         
Sub-Investigator: Neeraj Agarwal, MD         
Sub-Investigator: Dong Yoon, PhD         
Sub-Investigator: Tatum Simonson, PhD         
Sponsors and Collaborators
University of Utah
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Josef T. Prchal, MD University of Utah
  More Information

Responsible Party: University of Utah Identifier: NCT00722527     History of Changes
Other Study ID Numbers: 17665
5R01HL050077-13 ( US NIH Grant/Contract Award Number )
Study First Received: July 23, 2008
Last Updated: October 5, 2016

Keywords provided by University of Utah:
Primary Familial and Congenital Polycythemia
Molecular Biology
EPOR mutation

Additional relevant MeSH terms:
Hematologic Diseases
Blood Platelet Disorders
Myeloproliferative Disorders
Bone Marrow Diseases processed this record on May 25, 2017