Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes

NCT ID: NCT00715247

Last Updated: 2019-10-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

726 participants

Study Classification

OBSERVATIONAL

Study Start Date

2006-07-31

Study Completion Date

2018-12-31

Brief Summary

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The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.

Detailed Description

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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

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Polycythemia Vera Essential Thrombocythemia Myelofibrosis

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Affected Population

Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia.

No interventions assigned to this group

Healthy Female Controls

Healthy females who do not have the blood disorders; Polycythemia Vera, Essential Thrombocythemia and/or Myelofibrosis.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

1. Patients with an elevated hemoglobin concentration (\>18 in males and \>16 in females) and who are suspected to have congenital or acquired primary polycythemia
2. Patients with a persistent thrombocytosis (\>400,000) that does not have an obvious secondary cause
3. Patients with a bone marrow biopsy that shows increased cellularity and fibrosis
4. Patients where there is clinical concern for primary myelofibrosis, such as anemia in combination with leukocytosis, thrombocytosis, splenomegaly and/or a leukoerythroblastic blood smear
5. 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.

Exclusion Criteria

1. 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.
2. Subjects with a known acquired cause of thrombocytosis.
3. 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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Myeloproliferative Disorders-Research Consortium

NETWORK

Sponsor Role collaborator

National Cancer Institute (NCI)

NIH

Sponsor Role collaborator

University of Utah

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Josef T Prchal, MD

Role: PRINCIPAL_INVESTIGATOR

University of Utah

Locations

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University of Utah

Salt Lake City, Utah, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND
PMID: 17976520 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 17952198 (View on PubMed)

Gaikwad 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.

Reference Type BACKGROUND
PMID: 17533047 (View on PubMed)

Chen 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.

Reference Type BACKGROUND
PMID: 17435115 (View on PubMed)

Gaikwad 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.

Reference Type BACKGROUND
PMID: 17379069 (View on PubMed)

Hoffman 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.

Reference Type BACKGROUND
PMID: 17222772 (View on PubMed)

Nussenzveig 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.

Reference Type BACKGROUND
PMID: 17198871 (View on PubMed)

Chen GL, Liu E, Naidoo K, Popat U, Coetzer TL, Prchal JT. Idiopathic myelofibrosis without dacryocytes. Haematologica. 2006 Jun;91(6 Suppl):ECR29.

Reference Type BACKGROUND
PMID: 16785132 (View on PubMed)

Finazzi 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.

Reference Type BACKGROUND
PMID: 16781484 (View on PubMed)

Chen 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.

Reference Type BACKGROUND
PMID: 16781479 (View on PubMed)

Popat 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.

Reference Type BACKGROUND
PMID: 16418333 (View on PubMed)

Skoda 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.

Reference Type BACKGROUND
PMID: 16210031 (View on PubMed)

Other Identifiers

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1P01CA10867101A2

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

17793

Identifier Type: -

Identifier Source: org_study_id

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