Polycythemia VeraNCT00715247
Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes
An observational study of Polycythemia Vera and Essential Thrombocythemia, run by University of Utah at 1 site in United States.
Trial summary
The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Polycythemia Vera, Essential Thrombocythemia, Myelofibrosis
- How many people
- 726 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2006to Dec 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia.
Who may be able to join
- Patients with an elevated hemoglobin concentration (>18 in males and >16 in females) and who are suspected to have congenital or acquired primary polycythemia
- Patients with a persistent thrombocytosis (>400,000) that does not have an obvious secondary cause
- Patients with a bone marrow biopsy that shows increased cellularity and fibrosis
- Patients where there is clinical concern for primary myelofibrosis, such as anemia in combination with leukocytosis, thrombocytosis, splenomegaly and/or a leukoerythroblastic blood smear
- Patients with thrombosis at unusual sites, such as Budd-Chiari syndrome, can have early PV before hemoglobin is elevated, these patients will also be included.
Who cannot join
- Subjects who have a known acquired cause of polycythemia (increased hemoglobin/hematocrit) such as people living in high altitudes (in excess of 14,000 feet), subjects with heart disease, left to right heart shunt, severe hypoxia or severe pulmonary disease will be excluded from this study.
- Subjects with a known acquired cause of thrombocytosis.
- Subjects will be excluded if they cannot demonstrate decision making capacity sufficient to agree or decline the blood drawing or use of their blood for the study.
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.
Read the detailed description
Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF), also known as the Philadelphia Chromosome negative myeloproliferative disorders (MPDs), are not congenital, but acquired. The purpose of this project is to find genes whose mutations cause these disorders, as well as improve diagnostic measures for these diseases. When this is accomplished new therapies to control and eventually cure the disease can be designed.
All subjects will be asked to donate 4-6 teaspoons of blood. On occasion, if the blood cells from a particular sample do not grow well and the DNA from that sample is used up or other tests are needed, we may ask to collect additional samples. In patients who have undergone a bone marrow biopsy as part of their clinical evaluation, we will test the reproducibility between pathologists for the revised 2008 WHO diagnostic criteria to diagnose myeloproliferative disorders (MPD).
- Conditions
- Polycythemia Vera, Essential Thrombocythemia, Myelofibrosis
- Keywords
- Myeloproliferative Disorders, Hematological Malignancies, Polycythemia Vera, Essential Thrombocythemia, Myelofibrosis, Genetics, Chronic Leukemia
- Medical subject headings
- Polycythemia Vera, Thrombocythemia, Essential, Primary Myelofibrosis, Myeloproliferative Disorders, Hematologic Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected Population | Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia. | |
| Healthy Female Controls | Healthy females who do not have the blood disorders; Polycythemia Vera, Essential Thrombocythemia and/or Myelofibrosis. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.
Measured: Weekly
Secondary outcomes (1)
To determine if there are proteins expressed by cells from patients that might be targets for the immune response.
Measured: Weekly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jul 2008 (estimated)
- Study startJul 2006
- Primary completionDec 2018
- Study completionDec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (12)Papers the sponsor has linked to this study.
- Other trials for Polycythemia VeraStudies of the same condition, open and under way.
- More trials run by University of UtahThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 726 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Collaborators
- Myeloproliferative Disorders-Research Consortium, National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Josef T Prchal, MD, Principal investigator, University of Utah
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00715247
- Sponsor's protocol ID
- 17793
- Other IDs
- 1P01CA10867101A2
- Status last verified
- Oct 2019
- First submitted
- 11 Jul 2008
- Last updated
- 15 Oct 2019
- Results posted
- No
- Data monitoring committee
- No
Publications
Jelinek J, Li J, Mnjoyan Z, Issa JP, Prchal JT, Afshar-Kharghan V. Epigenetic control of PRV-1 expression on neutrophils. Exp Hematol. 2007 Nov;35(11):1677-83. doi: 10.1016/j.exphem.2007.09.008.
PubMed 17976520Agarwal 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 17952198Gaikwad A, Verstovsek S, Yoon D, Chang KT, Manshouri T, Nussenzveig R, Cortes J, Vainchenker W, Prchal JT. Imatinib effect on growth and signal transduction in polycythemia vera. Exp Hematol. 2007 Jun;35(6):931-8. doi: 10.1016/j.exphem.2007.03.012.
PubMed 17533047Chen GL, Prchal JT. X-linked clonality testing: interpretation and limitations. Blood. 2007 Sep 1;110(5):1411-9. doi: 10.1182/blood-2006-09-018655. Epub 2007 Apr 13.
PubMed 17435115Gaikwad A, Nussenzveig R, Liu E, Gottshalk S, Chang K, Prchal JT. In vitro expansion of erythroid progenitors from polycythemia vera patients leads to decrease in JAK2 V617F allele. Exp Hematol. 2007 Apr;35(4):587-95. doi: 10.1016/j.exphem.2006.12.007.
PubMed 17379069Hoffman R, Prchal JT, Samuelson S, Ciurea SO, Rondelli D. Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment. Biol Blood Marrow Transplant. 2007 Jan;13(1 Suppl 1):64-72. doi: 10.1016/j.bbmt.2006.11.003.
PubMed 17222772Nussenzveig RH, Swierczek SI, Jelinek J, Gaikwad A, Liu E, Verstovsek S, Prchal JF, Prchal JT. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007 Jan;35(1):32-8. doi: 10.1016/j.exphem.2006.11.012.
PubMed 17198871Chen GL, Liu E, Naidoo K, Popat U, Coetzer TL, Prchal JT. Idiopathic myelofibrosis without dacryocytes. Haematologica. 2006 Jun;91(6 Suppl):ECR29.
PubMed 16785132Finazzi G, Gregg XT, Barbui T, Prchal JT. Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Clin Haematol. 2006;19(3):471-82. doi: 10.1016/j.beha.2005.07.006.
PubMed 16781484Chen G, Prchal JT. Polycythemia vera and its molecular basis: an update. Best Pract Res Clin Haematol. 2006;19(3):387-97. doi: 10.1016/j.beha.2005.07.003.
PubMed 16781479Popat U, Frost A, Liu E, Guan Y, Durette A, Reddy V, Prchal JT. High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension. Blood. 2006 May 1;107(9):3486-8. doi: 10.1182/blood-2005-08-3319. Epub 2006 Jan 17.
PubMed 16418333Skoda R, Prchal JT. Chronic myeloproliferative disorders--introduction. Semin Hematol. 2005 Oct;42(4):181-3. doi: 10.1053/j.seminhematol.2005.08.004. No abstract available.
PubMed 16210031
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes
- ClinicalTrials.gov ID
- NCT00715247
- Acronym / sponsor ID
- 17793
- Conditions
- Polycythemia Vera, Essential Thrombocythemia, Myelofibrosis
- Keywords
- Myeloproliferative Disorders, Hematological Malignancies, Polycythemia Vera, Essential Thrombocythemia, Myelofibrosis, Genetics, Chronic Leukemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 726 participants (actual)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Collaborators
- Myeloproliferative Disorders-Research Consortium, National Cancer Institute (NCI)
- Study start
- Jul 2006
- Primary completion
- Dec 2018 (actual)
- Study completion
- Dec 2018 (actual)
- First posted
- 15 Jul 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.
Detailed description
Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF), also known as the Philadelphia Chromosome negative myeloproliferative disorders (MPDs), are not congenital, but acquired. The purpose of this project is to find genes whose mutations cause these disorders, as well as improve diagnostic measures for these diseases. When this is accomplished new therapies to control and eventually cure the disease can be designed.
All subjects will be asked to donate 4-6 teaspoons of blood. On occasion, if the blood cells from a particular sample do not grow well and the DNA from that sample is used up or other tests are needed, we may ask to collect additional samples. In patients who have undergone a bone marrow biopsy as part of their clinical evaluation, we will test the reproducibility between pathologists for the revised 2008 WHO diagnostic criteria to diagnose myeloproliferative disorders (MPD).
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected Population | – | –Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia. |
| Healthy Female Controls | – | –Healthy females who do not have the blood disorders; Polycythemia Vera, Essential Thrombocythemia and/or Myelofibrosis. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia.
Key inclusion criteria (5 listed)
- Patients with an elevated hemoglobin concentration (>18 in males and >16 in females) and who are suspected to have congenital or acquired primary polycythemia
- Patients with a persistent thrombocytosis (>400,000) that does not have an obvious secondary cause
- Patients with a bone marrow biopsy that shows increased cellularity and fibrosis
- Patients where there is clinical concern for primary myelofibrosis, such as anemia in combination with leukocytosis, thrombocytosis, splenomegaly and/or a leukoerythroblastic blood smear
- Patients with thrombosis at unusual sites, such as Budd-Chiari syndrome, can have early PV before hemoglobin is elevated, these patients will also be included.
Key exclusion criteria (3 listed)
- Subjects who have a known acquired cause of polycythemia (increased hemoglobin/hematocrit) such as people living in high altitudes (in excess of 14,000 feet), subjects with heart disease, left to right heart shunt, severe hypoxia or severe pulmonary disease will be excluded from this study.
- Subjects with a known acquired cause of thrombocytosis.
- Subjects will be excluded if they cannot demonstrate decision making capacity sufficient to agree or decline the blood drawing or use of their blood for the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.
Time frame: Weekly
1 secondary outcome
To determine if there are proteins expressed by cells from patients that might be targets for the immune response.
Time frame: Weekly
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2019.
- Background: PubMed 17976520Jelinek J, Li J, Mnjoyan Z, Issa JP, Prchal JT, Afshar-Kharghan V. Epigenetic control of PRV-1 expression on neutrophils. Exp Hematol. 2007 Nov;35(11):1677-83. doi: 10.1016/j.exphem.2007.09.008.
- Background: PubMed 17952198Agarwal 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.
- Background: PubMed 17533047Gaikwad A, Verstovsek S, Yoon D, Chang KT, Manshouri T, Nussenzveig R, Cortes J, Vainchenker W, Prchal JT. Imatinib effect on growth and signal transduction in polycythemia vera. Exp Hematol. 2007 Jun;35(6):931-8. doi: 10.1016/j.exphem.2007.03.012.
- Background: PubMed 17435115Chen GL, Prchal JT. X-linked clonality testing: interpretation and limitations. Blood. 2007 Sep 1;110(5):1411-9. doi: 10.1182/blood-2006-09-018655. Epub 2007 Apr 13.
- Background: PubMed 17379069Gaikwad A, Nussenzveig R, Liu E, Gottshalk S, Chang K, Prchal JT. In vitro expansion of erythroid progenitors from polycythemia vera patients leads to decrease in JAK2 V617F allele. Exp Hematol. 2007 Apr;35(4):587-95. doi: 10.1016/j.exphem.2006.12.007.
- Background: PubMed 17222772Hoffman R, Prchal JT, Samuelson S, Ciurea SO, Rondelli D. Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment. Biol Blood Marrow Transplant. 2007 Jan;13(1 Suppl 1):64-72. doi: 10.1016/j.bbmt.2006.11.003.
- Background: PubMed 17198871Nussenzveig RH, Swierczek SI, Jelinek J, Gaikwad A, Liu E, Verstovsek S, Prchal JF, Prchal JT. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007 Jan;35(1):32-8. doi: 10.1016/j.exphem.2006.11.012.
- Background: PubMed 16785132Chen GL, Liu E, Naidoo K, Popat U, Coetzer TL, Prchal JT. Idiopathic myelofibrosis without dacryocytes. Haematologica. 2006 Jun;91(6 Suppl):ECR29.
- Background: PubMed 16781484Finazzi G, Gregg XT, Barbui T, Prchal JT. Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Clin Haematol. 2006;19(3):471-82. doi: 10.1016/j.beha.2005.07.006.
- Background: PubMed 16781479Chen G, Prchal JT. Polycythemia vera and its molecular basis: an update. Best Pract Res Clin Haematol. 2006;19(3):387-97. doi: 10.1016/j.beha.2005.07.003.
- Background: PubMed 16418333Popat U, Frost A, Liu E, Guan Y, Durette A, Reddy V, Prchal JT. High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension. Blood. 2006 May 1;107(9):3486-8. doi: 10.1182/blood-2005-08-3319. Epub 2006 Jan 17.
- Background: PubMed 16210031Skoda R, Prchal JT. Chronic myeloproliferative disorders--introduction. Semin Hematol. 2005 Oct;42(4):181-3. doi: 10.1053/j.seminhematol.2005.08.004. No abstract available.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Josef T Prchal, MD principal investigator
University of Utah
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Polycythemia Vera and Essential Thrombocythemia, run by University of Utah at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Oct 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis. (time frame: Weekly). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00715247, which also lists 12 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2019; AzTrials last refreshed its copy on 8 Nov 2026.