Molecular Biology of Polycythemia and Thrombocytosis

Recruiting

• Conditions: Polycythemia; Thrombocytosis

• Registration Number: NCT00722527
• Lead Sponsor: University of Utah

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.

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 Timeline

• Study Start: 2006-07
• Study First Submitted: 2008-07-23
• Study First Submitted QC: 2008-07-24
• Study First Posted: 2008-07-25
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-23
• Last Update Posted: 2025-01-24
• Primary Completion: 2028-07
• Study Completion: 2028-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identify the molecular defect of Polycythemic and Thrombocythemic disorders	Weekly

Trial Locations

Locations (1)

University of Utah; 🇺🇸 Salt Lake City, Utah, United States