Molecular Biology of Polycythemia and Thrombocytosis | NCT00722527

Studies
Molecular Biology of Polycythemia and Thrombocytosis

NCT00722527

Sponsor

University of Utah

Status

Recruiting

Last Update Posted

Mar 9, 2026Actual

Enrollment

200Estimated

Phase

Not provided

Conditions

Polycythemia
Thrombocytosis

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
5R01HL050077-13	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Mar 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 2006

Primary Completion Date

Jul 2028Estimated

Completion Date

Jul 2028Estimated

First Submitted Date

Jul 23, 2008

First Submission Date that Met QC Criteria

Jul 24, 2008

First Posted Date

Jul 25, 2008Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 5, 2026

Last Update Posted Date

Mar 9, 2026Actual

Name	Class
National Heart, Lung, and Blood Institute (NHLBI)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

200Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Affected Population		Subjects with an elevated hemoglobin concentration or an elevated platelet count

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Identify the molecular defect of Polycythemic and Thrombocythemic disorders		Weekly

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Josef T Prchal, MD	Contact	801-581-4220		josef.prchal@hsc.utah.edu
Soo Jin Kim, MS	Contact	801-213-4379		soo.kim@hsc.utah.edu

Overall Officials

Name	Affiliation	Role
Josef T. Prchal, MD	University of Utah	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of Utah	Recruiting	Salt Lake City	Utah	84132	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
17881647	Background	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.
16210040	Background	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.

ID	Term
D011086	Polycythemia
D013922	Thrombocytosis
C536842	Polycythemia, primary familial and congenital
D000860	Hypoxia

ID	Term
D006402	Hematologic Diseases
D006425	Hemic and Lymphatic Diseases
D001791	Blood Platelet Disorders
D009196	Myeloproliferative Disorders