Molecular Biology of Polycythemia and Thrombocytosis

This study is currently recruiting participants.

Verified June 2012 by University of Utah

Sponsor:

Collaborator:

National Institutes of Health (NIH)

Information provided by (Responsible Party):

University of Utah

ClinicalTrials.gov Identifier:

NCT00722527

First received: July 23, 2008

Last updated: June 8, 2012

Last verified: June 2012

History of Changes

Purpose

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
Polycythemia Thrombocytosis

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

Further study details as provided by University of Utah:

Primary Outcome Measures:

Identify the molecular defect of Polycythemic and Thrombocythemic disorders [ Time Frame: Weekly ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

Whole blood

Estimated Enrollment:	200
Study Start Date:	July 2006
Estimated Study Completion Date:	May 2015
Estimated Primary Completion Date:	May 2015 (Final data collection date for primary outcome measure)

Groups/Cohorts
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.

Eligibility

Genders Eligible for Study:	Both
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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00722527

Contacts

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

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 Institutes of Health (NIH)

Investigators

Principal Investigator:

Josef T. Prchal, MD

University of Utah

More Information

Publications:

Prchal JT, Gordeuk VR. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7. No abstract available.

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.

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. No abstract available.

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.

Responsible Party:	University of Utah
ClinicalTrials.gov Identifier:	NCT00722527 History of Changes
Other Study ID Numbers:	17665, 5R01HL50077-13
Study First Received:	July 23, 2008
Last Updated:	June 8, 2012
Health Authority:	United States: Institutional Review Board

Keywords provided by University of Utah:

Primary Familial and Congenital Polycythemia
Polycythemia
Molecular Biology
Genetics

Erythropoiesis
EPOR mutation
Thrombocytosis
Hypoxia

Additional relevant MeSH terms:

Polycythemia
Thrombocytosis
Hematologic Diseases

Blood Platelet Disorders
Myeloproliferative Disorders
Bone Marrow Diseases

ClinicalTrials.gov processed this record on May 16, 2013

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