Ignite Creation Date:
2025-12-25 @ 5:06 AM
Ignite Modification Date:
2025-12-26 @ 4:09 AM
Study NCT ID:
NCT00722527
Status:
RECRUITING
Last Update Posted:
2025-01-24
First Post:
2008-07-23
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Molecular Biology of Polycythemia and Thrombocytosis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D011086', 'term': 'Polycythemia'}, {'id': 'D013922', 'term': 'Thrombocytosis'}, {'id': 'C536842', 'term': 'Polycythemia, primary familial and congenital'}, {'id': 'D000860', 'term': 'Hypoxia'}], 'ancestors': [{'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D001791', 'term': 'Blood Platelet Disorders'}, {'id': 'D009196', 'term': 'Myeloproliferative Disorders'}, {'id': 'D001855', 'term': 'Bone Marrow Diseases'}, {'id': 'D012818', 'term': 'Signs and Symptoms, Respiratory'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2006-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2028-07', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-01-23', 'studyFirstSubmitDate': '2008-07-23', 'studyFirstSubmitQcDate': '2008-07-24', 'lastUpdatePostDateStruct': {'date': '2025-01-24', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2008-07-25', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2028-07', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identify the molecular defect of Polycythemic and Thrombocythemic disorders', 'timeFrame': 'Weekly'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Primary Familial and Congenital Polycythemia', 'Polycythemia', 'Molecular Biology', 'Genetics', 'Erythropoiesis', 'EPOR mutation', 'Thrombocytosis', 'Hypoxia'], 'conditions': ['Polycythemia', 'Thrombocytosis']}, 'referencesModule': {'references': [{'pmid': '17881647', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '16210040', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '15865879', 'type': 'BACKGROUND', 'citation': 'Gregg XT, Prchal JT. Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. Curr Hematol Rep. 2005 May;4(3):238-42.'}, {'pmid': '15642680', 'type': 'BACKGROUND', 'citation': 'Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica. 2005 Jan;90(1):128-9.'}, {'pmid': '14636647', 'type': 'BACKGROUND', 'citation': 'Jedlickova K, Stockton DW, Prchal JT. Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):327-31. doi: 10.1016/s1079-9796(03)00167-0.'}, {'pmid': '18456917', 'type': 'RESULT', 'citation': 'Prchal JT, Gordeuk VR. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7. No abstract available.'}, {'pmid': '17952198', 'type': 'RESULT', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.\n\n5-7 teaspoons of peripheral blood will be drawn on all study subjects. After DNA is obtained, linkage analysis and/or mutation analysis will be performed.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Subjects who have polycythemia and thrombocytosis will be included in the study.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Subjects with an elevated hemoglobin concentration (\\>18 in males and \\>16 in females)\n2. Subjects with an elevated platelet count (\\>450,000)\n\nExclusion Criteria:\n\n1. Subjects who have a known acquired cause of polycythemia and thrombocytosis\n2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease'}, 'identificationModule': {'nctId': 'NCT00722527', 'briefTitle': 'Molecular Biology of Polycythemia and Thrombocytosis', 'organization': {'class': 'OTHER', 'fullName': 'University of Utah'}, 'officialTitle': 'Molecular Biology of Polycythemia and Thrombocytosis', 'orgStudyIdInfo': {'id': '17665'}, 'secondaryIdInfos': [{'id': '5R01HL050077-13', 'link': 'https://reporter.nih.gov/quickSearch/5R01HL050077-13', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Affected Population', 'description': 'Subjects with an elevated hemoglobin concentration or an elevated platelet count'}]}, 'contactsLocationsModule': {'locations': [{'zip': '84132', 'city': 'Salt Lake City', 'state': 'Utah', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Josef T Prchal, MD', 'role': 'CONTACT', 'email': 'josef.prchal@hsc.utah.edu', 'phone': '801-581-4220'}, {'name': 'Soo Jin Kim, MS', 'role': 'CONTACT', 'email': 'soo.kim@hsc.utah.edu', 'phone': '801-213-4379'}, {'name': 'Josef T Prchal, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Neeraj Agarwal, MD', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Dong Yoon, PhD', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Tatum Simonson, PhD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'University of Utah', 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}], 'centralContacts': [{'name': 'Josef T Prchal, MD', 'role': 'CONTACT', 'email': 'josef.prchal@hsc.utah.edu', 'phone': '801-581-4220'}, {'name': 'Soo Jin Kim, MS', 'role': 'CONTACT', 'email': 'soo.kim@hsc.utah.edu', 'phone': '801-213-4379'}], 'overallOfficials': [{'name': 'Josef T. Prchal, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Utah'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Utah', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Heart, Lung, and Blood Institute (NHLBI)', 'class': 'NIH'}], 'responsibleParty': {'type': 'SPONSOR'}}}}