Ignite Creation Date:
2025-12-24 @ 3:57 PM
Ignite Modification Date:
2025-12-30 @ 12:56 AM
Study NCT ID:
NCT07204392
Status:
RECRUITING
Last Update Posted:
2025-10-02
First Post:
2025-09-24
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009196', 'term': 'Myeloproliferative Disorders'}], 'ancestors': [{'id': 'D001855', 'term': 'Bone Marrow Diseases'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 313}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-06-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2030-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-24', 'studyFirstSubmitDate': '2025-09-24', 'studyFirstSubmitQcDate': '2025-09-24', 'lastUpdatePostDateStruct': {'date': '2025-10-02', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-10-02', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2030-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.', 'timeFrame': '3 years'}, {'measure': 'To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS).', 'timeFrame': '3 years'}], 'secondaryOutcomes': [{'measure': 'To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes', 'timeFrame': '3 years'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Myeloproliferative Disease', 'Germline Mutation']}, 'descriptionModule': {'briefSummary': 'The classic Ph-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic disorders caused by a dysregulated JAK/STAT signal transduction because of acquired somatic mutations of JAK2, CALR or MPL genes. They are sporadic diseases but there are several lines of evidence that support the role of germline factors in the pathogenesis of MPN: the existence of familial clustering, the presence of more than one clone in some patients, the known existence of common polymorphisms that cause predisposition to MPN.\n\nIn this study, we would like to define the germline predisposition to MPN.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'patients affected with early-onset or familial myeloproliferative', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* A diagnosis of PV, ET, prePMF, overt PMF or MPN-U according to 2016 WHO criteria\n* Characterization of the MPN driver mutation performed at any moment before enrolment\n* diagnosis of MPN made when the patient was younger than 27 years old OR at least a second case of hematologic malignancies in first or second-degree relatives\n\nExclusion Criteria:\n\n* None'}, 'identificationModule': {'nctId': 'NCT07204392', 'briefTitle': 'Unveiling the Germline Predisposition to Myeloproliferative Neoplasms', 'organization': {'class': 'OTHER', 'fullName': 'Fondazione IRCCS Policlinico San Matteo di Pavia'}, 'officialTitle': 'Unveiling the Germline Predisposition to Myeloproliferative Neoplasms', 'orgStudyIdInfo': {'id': 'U27_MPN'}}, 'contactsLocationsModule': {'locations': [{'zip': '27100', 'city': 'Pavia', 'state': 'Lombardy', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Elisa Rumi', 'role': 'CONTACT', 'email': 'e.rumi@smatteo.pv.it', 'phone': '0382-503084'}], 'facility': 'Fondazione IRCCS Policlinico San Matteo', 'geoPoint': {'lat': 45.19205, 'lon': 9.15917}}], 'centralContacts': [{'name': 'Elisa Rumi', 'role': 'CONTACT', 'email': 'e.rumi@smatteo.pv.it', 'phone': '0382-503084'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fondazione IRCCS Policlinico San Matteo di Pavia', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'MD', 'investigatorFullName': 'Elisa Rumi', 'investigatorAffiliation': 'Fondazione IRCCS Policlinico San Matteo di Pavia'}}}}