NCT00715247

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
726

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jul 2006

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 2006

Completed
2 years until next milestone

First Submitted

Initial submission to the registry

July 11, 2008

Completed
4 days until next milestone

First Posted

Study publicly available on registry

July 15, 2008

Completed
10.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2018

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2018

Completed
Last Updated

October 15, 2019

Status Verified

October 1, 2019

Enrollment Period

12.4 years

First QC Date

July 11, 2008

Last Update Submit

October 14, 2019

Conditions

Polycythemia VeraEssential ThrombocythemiaMyelofibrosis

Keywords

Myeloproliferative DisordersHematological MalignanciesPolycythemia VeraEssential ThrombocythemiaMyelofibrosisGeneticsChronic Leukemia

Outcome Measures

Primary Outcomes (1)

  • Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.

    Weekly

Secondary Outcomes (1)

  • To determine if there are proteins expressed by cells from patients that might be targets for the immune response.

    Weekly

Study Arms (2)

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.

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Utah

Salt Lake City, Utah, 84132, United States

Location

Related Publications (12)

  • 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.

    PMID: 17976520BACKGROUND

  • 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.

    PMID: 17952198BACKGROUND

  • 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.

    PMID: 17533047BACKGROUND

  • 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.

    PMID: 17435115BACKGROUND

  • 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.

    PMID: 17379069BACKGROUND

  • 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.

    PMID: 17222772BACKGROUND

  • 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.

    PMID: 17198871BACKGROUND

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

    PMID: 16785132BACKGROUND

  • 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.

    PMID: 16781484BACKGROUND

  • 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.

    PMID: 16781479BACKGROUND

  • 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.

    PMID: 16418333BACKGROUND

  • 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.

    PMID: 16210031BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood and bone marrow aspirate

MeSH Terms

Conditions

Polycythemia VeraThrombocythemia, EssentialPrimary MyelofibrosisMyeloproliferative DisordersHematologic Neoplasms

Condition Hierarchy (Ancestors)

Bone Marrow NeoplasmsNeoplasms by SiteNeoplasmsBone Marrow DiseasesHematologic DiseasesHemic and Lymphatic DiseasesBlood Coagulation DisordersThrombocytosisBlood Platelet DisordersHemorrhagic Disorders

Study Officials

  • Josef T Prchal, MD

    University of Utah

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 11, 2008

First Posted

July 15, 2008

Study Start

July 1, 2006

Primary Completion

December 1, 2018

Study Completion

December 1, 2018

Last Updated

October 15, 2019

Record last verified: 2019-10

Locations

US(1)