NCT00722527

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
26mo left

Started Jul 2006

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress90%
Jul 2006Jul 2028

Study Start

First participant enrolled

July 1, 2006

Completed
2.1 years until next milestone

First Submitted

Initial submission to the registry

July 23, 2008

Completed
2 days until next milestone

First Posted

Study publicly available on registry

July 25, 2008

Completed
19.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2028

Last Updated

March 9, 2026

Status Verified

March 1, 2026

Enrollment Period

22 years

First QC Date

July 23, 2008

Last Update Submit

March 5, 2026

Conditions

PolycythemiaThrombocytosis

Keywords

Primary Familial and Congenital PolycythemiaPolycythemiaMolecular BiologyGeneticsErythropoiesisEPOR mutationThrombocytosisHypoxia

Outcome Measures

Primary Outcomes (1)

  • Identify the molecular defect of Polycythemic and Thrombocythemic disorders

    Weekly

Study Arms (1)

Affected Population

Subjects with an elevated hemoglobin concentration or an elevated platelet count

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Subjects who have polycythemia and thrombocytosis will be included in the study.

You may qualify if:

  • Subjects with an elevated hemoglobin concentration (\>18 in males and \>16 in females)
  • Subjects with an elevated platelet count (\>450,000)

You may not qualify if:

  • Subjects who have a known acquired cause of polycythemia and thrombocytosis
  • Subjects with heart disease, left to right heart shunt or severe pulmonary disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Utah

Salt Lake City, Utah, 84132, United States

RECRUITING

Related Publications (7)

  • 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.

    PMID: 17881647BACKGROUND

  • 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.

    PMID: 16210040BACKGROUND

  • 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.

    PMID: 15865879BACKGROUND

  • 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.

    PMID: 15642680BACKGROUND

  • 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.

    PMID: 14636647BACKGROUND

  • 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.

    PMID: 18456917RESULT

  • 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.

    PMID: 17952198RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

PolycythemiaThrombocytosisPolycythemia, primary familial and congenitalHypoxia

Condition Hierarchy (Ancestors)

Hematologic DiseasesHemic and Lymphatic DiseasesBlood Platelet DisordersMyeloproliferative DisordersBone Marrow DiseasesSigns and Symptoms, RespiratorySigns and SymptomsPathological Conditions, Signs and Symptoms

Study Officials

  • Josef T. Prchal, MD

    University of Utah

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Josef T Prchal, MD

CONTACT

801-581-4220josef.prchal@hsc.utah.edu

Soo Jin Kim, MS

CONTACT

801-213-4379soo.kim@hsc.utah.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 23, 2008

First Posted

July 25, 2008

Study Start

July 1, 2006

Primary Completion (Estimated)

July 1, 2028

Study Completion (Estimated)

July 1, 2028

Last Updated

March 9, 2026

Record last verified: 2026-03

Locations

US(1)