Understanding the genetics of Polycythemia and Thrombocytosis

Molecular Biology of Polycythemia and Thrombocytosis

Observational University of Utah · NCT00722527

This study is trying to find out how genetics affects Polycythemia and Thrombocytosis by looking at blood samples from people with these conditions to help develop better treatments.

Quick facts

Study typeObservational
Enrollment200 (estimated)
SexAll
SponsorUniversity of Utah Academic / other
Locations1 site (Salt Lake City, Utah)
Trial IDNCT00722527 on ClinicalTrials.gov

What this trial studies

This observational study aims to characterize the clinical features and genetic patterns associated with Polycythemia and Thrombocytosis. Researchers will investigate the genetic mutations that may cause these disorders through genetic and cell biology techniques. Participants will have a small amount of blood drawn for DNA analysis, which will help identify the molecular defects linked to these conditions. The ultimate goal is to pave the way for new therapies to manage or potentially cure these disorders.

Who should consider this trial

Good fit: Ideal candidates include individuals with elevated hemoglobin or platelet counts without known acquired causes.

Not a fit: Patients with known acquired causes of their conditions or significant heart or pulmonary diseases may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to the development of targeted therapies for patients suffering from Polycythemia and Thrombocytosis.

How similar studies have performed: Other studies investigating genetic causes of blood disorders have shown promise, suggesting that this approach could yield valuable insights.

Eligibility criteria

Show full inclusion / exclusion criteria
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

Where this trial is running

Salt Lake City, Utah

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions PolycythemiaThrombocytosisPrimary Familial and Congenital PolycythemiaMolecular BiologyGeneticsErythropoiesisEPOR mutationHypoxia
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.