Molecular Biology of Polycythemia and Thrombocytosis

Utah System of Higher Education (USHE)

Status: Enrolling

Conditions: Thrombocytosis; Polycythemia

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00722527

5R01HL050077-13 (U.S. NIH Grant/Contract)

17665

Details and patient eligibility

About

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.

Full 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.

Enrollment: 200 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

200 participants in 1 patient group

Affected Population

Description:

Subjects with an elevated hemoglobin concentration or an elevated platelet count