Molecular Biology of Polycythemia and Thrombocytosis

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ClinicalTrials.gov Identifier: NCT00722527

Recruitment Status : Recruiting

First Posted : July 25, 2008

Last Update Posted : October 23, 2020

See Contacts and Locations

Sponsor:

Collaborator:

National Heart, Lung, and Blood Institute (NHLBI)

Information provided by (Responsible Party):

University of Utah

Study Description

Brief Summary:

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.

Condition or disease
Polycythemia Thrombocytosis

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.

Study Design

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Study Type :	Observational
Estimated Enrollment :	200 participants
Observational Model:	Cohort
Time Perspective:	Prospective
Official Title:	Molecular Biology of Polycythemia and Thrombocytosis
Study Start Date :	July 2006
Estimated Primary Completion Date :	July 2023
Estimated Study Completion Date :	July 2023

Resource links provided by the National Library of Medicine

Genetic and Rare Diseases Information Center resources: Chronic Myeloproliferative Disorders

U.S. FDA Resources

Groups and Cohorts

Group/Cohort
Affected Population Subjects with an elevated hemoglobin concentration or an elevated platelet count

Outcome Measures

Primary Outcome Measures :

Identify the molecular defect of Polycythemic and Thrombocythemic disorders [ Time Frame: Weekly ]

Biospecimen Retention: Samples With DNA

Whole blood

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	Child, Adult, Older Adult
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.

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Subjects who have a known acquired cause of polycythemia and thrombocytosis
Subjects with heart disease, left to right heart shunt or severe pulmonary disease

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00722527

Contacts

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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

Locations

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United States, Utah
University of Utah	Recruiting
Salt Lake City, Utah, United States, 84132
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
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)

Investigators

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Principal Investigator:	Josef T. Prchal, MD	University of Utah

More Information

Publications of Results:

Prchal JT, Gordeuk VR. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7.

Agarwal N, Mojica-Henshaw MP, Simmons ED, Hussey D, Ou CN, Prchal JT. Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. Int J Med Sci. 2007 Oct 4;4(4):232-6.

Other Publications:

Percy MJ, Sanchez M, Swierczek S, McMullin MF, Mojica-Henshaw MP, Muckenthaler MU, Prchal JT, Hentze MW. Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element? Blood. 2007 Oct 1;110(7):2776-7.

Skoda R, Prchal JT. Lessons from familial myeloproliferative disorders. Semin Hematol. 2005 Oct;42(4):266-73. Review.

Gregg XT, Prchal JT. Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. Curr Hematol Rep. 2005 May;4(3):238-42. Review.

Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica. 2005 Jan;90(1):128-9.

Jedlickova K, Stockton DW, Prchal JT. Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):327-31.

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Responsible Party:	University of Utah
ClinicalTrials.gov Identifier:	NCT00722527
Other Study ID Numbers:	17665 5R01HL050077-13 ( U.S. NIH Grant/Contract )
First Posted:	July 25, 2008 Key Record Dates
Last Update Posted:	October 23, 2020
Last Verified:	October 2020

Keywords provided by University of Utah:


Primary Familial and Congenital Polycythemia Polycythemia Molecular Biology Genetics	Erythropoiesis EPOR mutation Thrombocytosis Hypoxia

Additional relevant MeSH terms:

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Polycythemia Thrombocytosis Hematologic Diseases	Blood Platelet Disorders Myeloproliferative Disorders Bone Marrow Diseases

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