Molecular Biology of Polycythemia and Thrombocytosis

NCT ID: NCT00722527

Last Updated: 2025-01-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2006-07-31

Study Completion Date

2028-07-31

Brief Summary

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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

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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.

Conditions

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Polycythemia Thrombocytosis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Affected Population

Subjects with an elevated hemoglobin concentration or an elevated platelet count

No interventions assigned to this group

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role collaborator

University of Utah

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Josef T. Prchal, MD

Role: PRINCIPAL_INVESTIGATOR

University of Utah

Locations

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University of Utah

Salt Lake City, Utah, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Josef T Prchal, MD

Role: CONTACT

801-581-4220

Soo Jin Kim, MS

Role: CONTACT

801-213-4379

Facility Contacts

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Josef T Prchal, MD

Role: primary

801-581-4220

Soo Jin Kim, MS

Role: backup

801-213-4379

References

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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.

Reference Type BACKGROUND
PMID: 17881647 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 16210040 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 15865879 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 15642680 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 14636647 (View on PubMed)

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.

Reference Type RESULT
PMID: 18456917 (View on PubMed)

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: 10.7150/ijms.4.232.

Reference Type RESULT
PMID: 17952198 (View on PubMed)

Other Identifiers

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5R01HL050077-13

Identifier Type: NIH

Identifier Source: secondary_id

View Link

17665

Identifier Type: -

Identifier Source: org_study_id

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