Molecular Biology of Polycythemia and Thrombocytosis

Thrombocytosis Clinical Trial

Official title:

Molecular Biology of Polycythemia and Thrombocytosis

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00722527
• Other study ID #: 17665
• Secondary ID: 5R01HL050077-13
• Status: Recruiting
• Start date: July 2006
• Est. completion date: July 2028

Study information

• Verified date: December 2023
• Source: University of Utah
• Contact: Josef T Prchal, MD
• Phone: 801-581-4220
• Email: josef.prchal[@]hsc.utah.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: July 2028
• Est. primary completion date: July 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Polycythemia
• Thrombocytosis

Locations

Country	Name	City	State
United States	University of Utah	Salt Lake City	Utah

Sponsors (2)

Lead Sponsor	Collaborator
University of Utah	National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

References & Publications (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. doi: 10.715 — View Citation

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. — View Citation

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. — View Citation

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. doi: 10.1016/s1079-9796(03)00167-0. — View Citation

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. doi: 10.1182/blood-2007-03-082503. No abstract available. — View Citation

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. — View Citation

Skoda R, Prchal JT. Lessons from familial myeloproliferative disorders. Semin Hematol. 2005 Oct;42(4):266-73. doi: 10.1053/j.seminhematol.2005.08.002. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identify the molecular defect of Polycythemic and Thrombocythemic disorders		Weekly