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RecruitingNCT00722527Updated Mar 9, 2026

Molecular Biology of Polycythemia and Thrombocytosis

An observational study in Polycythemia and Thrombocytosis, sponsored by University of Utah. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-03-09.

Sponsored by University of Utah · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
200
Sex
All
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Study 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.

Read the 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.

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Conditions studied

  • Polycythemia
  • Thrombocytosis

Keywords

  • Primary Familial and Congenital Polycythemia
  • Polycythemia
  • Molecular Biology
  • Genetics
  • Erythropoiesis
  • EPOR mutation
  • Thrombocytosis
  • Hypoxia
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In context

Polycythemia

32 studies on the registry are indexed under Polycythemia; 12 are open to participants now.

Browse Polycythemia studies →

Lead sponsor

University of Utah is the lead sponsor of 994 studies on the registry; 175 are open to participants now.

Of its 114 completed or terminated interventional studies of FDA-regulated products, 69 (61%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  1. Subjects with an elevated concentration (>18 in males and >16 in females)
  2. Subjects with an elevated count (>450,000)

Exclusion criteria

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
Terms in these criteria, in plain language(2)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Hemoglobin (Hb)

The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).

Platelets

Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.

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Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
200 participants (estimated)
Biospecimen retention
Samples with dna

Groups and cohorts

  • Affected Population

    Subjects with an elevated hemoglobin concentration or an elevated platelet count

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What researchers measure

Primary outcomes

  1. Identify the molecular defect of Polycythemic and Thrombocythemic disorders

    Time frame: Weekly

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Study locations

1 of 1 sites recruiting
  • University of Utah
    Salt Lake City, Utah 84132, United States
    Recruiting
    • Josef T Prchal, MD · Contactjosef.prchal@hsc.utah.edu · 801-581-4220
    • Soo Jin Kim, MS · Contactsoo.kim@hsc.utah.edu · 801-213-4379
    • Josef T Prchal, MD · Principal investigator
    • Neeraj Agarwal, MD · Sub investigator
    • Dong Yoon, PhD · Sub investigator
    • Tatum Simonson, PhD · Sub investigator
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References and documents

Publications

  • 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. PubMed 17881647 ↗
  • 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. PubMed 16210040 ↗
  • 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. PubMed 15865879 ↗
  • 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. PubMed 15642680 ↗
  • 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. PubMed 14636647 ↗
  • 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. PubMed 18456917 ↗
  • 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. PubMed 17952198 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Mar 9, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00722527
Lead sponsor
University of Utah
Responsible party
Sponsor
First posted
Jul 25, 2008
Start date
Jul 2006
Primary completion
Jul 2028 (estimated)
Completion
Jul 2028 (estimated)
Last update
Mar 9, 2026

Study contacts

Josef T Prchal, MD
Contact
josef.prchal@hsc.utah.edu
801-581-4220
Soo Jin Kim, MS
Contact
soo.kim@hsc.utah.edu
801-213-4379
Josef T. Prchal, MD
principal investigator · University of Utah

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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