Molecular Biology of Polycythemia and Thrombocytosis

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2012 by University of Utah
Sponsor:
Collaborator:
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
  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

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 ] [ 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:

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

Publications:
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
Blood Platelet Disorders
Bone Marrow Diseases
Hematologic Diseases
Myeloproliferative Disorders

ClinicalTrials.gov processed this record on October 20, 2014