Ignite Creation Date:
2025-12-24 @ 10:46 PM
Ignite Modification Date:
2025-12-26 @ 5:47 AM
Study NCT ID:
NCT06194669
Status:
RECRUITING
Last Update Posted:
2024-01-10
First Post:
2023-12-22
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002292', 'term': 'Carcinoma, Renal Cell'}, {'id': 'D006623', 'term': 'von Hippel-Lindau Disease'}], 'ancestors': [{'id': 'D000230', 'term': 'Adenocarcinoma'}, {'id': 'D002277', 'term': 'Carcinoma'}, {'id': 'D009375', 'term': 'Neoplasms, Glandular and Epithelial'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D007680', 'term': 'Kidney Neoplasms'}, {'id': 'D014571', 'term': 'Urologic Neoplasms'}, {'id': 'D014565', 'term': 'Urogenital Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D020752', 'term': 'Neurocutaneous Syndromes'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000798', 'term': 'Angiomatosis'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D000072661', 'term': 'Ciliopathies'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'whole blood, urine samples, kidney tumor biopsies, kidney cyst biopsies, normal kidney tissue adjacent to tumor biopsies'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 50}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-06-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-01', 'completionDateStruct': {'date': '2027-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-01-08', 'studyFirstSubmitDate': '2023-12-22', 'studyFirstSubmitQcDate': '2023-12-22', 'lastUpdatePostDateStruct': {'date': '2024-01-10', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-01-08', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Rate of somatic mutation accumulation in normal kidney tubule genomes', 'timeFrame': 'Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 years)', 'description': "The genome of multiple normal kidney cells from each subject will be investigated by whole genome sequencing. The number of somatic mutations per genome will be plotted according to donor's age and a curve describing the accumulation of mutations with age will be obtained for both the control and VHL-disease patient populations. The aim is to assess differences in mutation rates in the kidney of VHL-disease patients vs controls and understand the underlying mechanism."}], 'secondaryOutcomes': [{'measure': 'Quantification of pre-cancer cells in urines', 'timeFrame': 'Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 years)', 'description': 'From each urine sample, researchers can culture up to 20 single cell clones and perform a single-clone, gene-expression analysis. The expression of markers that characterize the mutation-prone, pre-cancer population will be assessed in all clones. The fraction of clones expressing markers of pre-cancer cells will be calculated in control and VHL-disease groups. The aim is to assess any differences in the presence of pre-cancer cells in urines from VHL-disease patients vs controls and assess any correlation of this parameter with kidney cancer occurrence.'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Somatic mutations', 'Whole genome sequencing', 'Normal kidney'], 'conditions': ['Carcinoma, Renal Cell', 'Von Hippel-Lindau Disease']}, 'descriptionModule': {'briefSummary': 'The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. The main questions the study aims to answer are:\n\n* Do kidney cells from VHL patients mutate more than cells from control individuals during adult life?\n* What mechanisms favor somatic mutation occurrence in the genome of normal kidney tubule cells?\n\nParticipants will donate one blood sample and multiple urine samples. Urines will be used for kidney cell isolation, followed by cell culturing and genetic analyses. Urine samples will be collected once a year for 3-5 years. Sample collection will occur during the yearly screening program that each patient undergoes at the hospital. In case patients undergo surgical treatment of kidney tumors, samples discarded from surgery (tumor and normal kidney adjacent to tumor) will be collected and subjected to genetic analyses.\n\nResearchers will compare the number and types of mutations found in tumors and normal kidney cells from VHL-disease patients with those found in normal kidney cells from control individuals, to see if somatic mutation rates are increased in VHL-disease patients during aging.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with genetic diagnosis of VHL-disease, between 25 and 65, both genders', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Genetic diagnosis of VHL-disease; age (data need to be collected from a population distributed between 25 and 65 years); gender (males and females should be equally represented);\n\nExclusion Criteria:\n\n* patients with bilateral nephrectomy, in dialysis or kidney transplant; use of nephrotoxic drugs'}, 'identificationModule': {'nctId': 'NCT06194669', 'acronym': 'SoMuKT', 'briefTitle': 'Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS San Raffaele'}, 'officialTitle': 'Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells', 'orgStudyIdInfo': {'id': 'SoMuKT'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Controls', 'description': 'Healthy volunteers; patients referring to San Raffaele Hospital for renal/urological conditions other than VHL', 'interventionNames': ['Other: Blood and urine sample collection']}, {'label': 'VHL-disease patients', 'description': 'Individuals with genetic diagnosis of Von Hippel Lindau disease', 'interventionNames': ['Other: Blood and urine sample collection']}], 'interventions': [{'name': 'Blood and urine sample collection', 'type': 'OTHER', 'description': 'One whole blood sample per individual (3 ml) will be collected. Up to 5 urine samples per individual will be collected', 'armGroupLabels': ['Controls', 'VHL-disease patients']}]}, 'contactsLocationsModule': {'locations': [{'zip': '20132', 'city': 'Milan', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Irene Franco, PhD', 'role': 'CONTACT', 'email': 'franco.irene@hsr.it', 'phone': '+39 0226432357'}, {'name': 'Daniela Canibus, Bsc', 'role': 'CONTACT', 'email': 'canibus.daniela@hsr.it', 'phone': '+39 0226435628'}], 'facility': 'IRCCS Ospedale San Raffaele', 'geoPoint': {'lat': 45.46427, 'lon': 9.18951}}], 'centralContacts': [{'name': 'Irene Franco, PhD', 'role': 'CONTACT', 'email': 'franco.irene@hsr.it', 'phone': '+39 02 2643 2357'}, {'name': 'Daniela Canibus, BsC', 'role': 'CONTACT', 'email': 'canibus.daniela@hsr.it', 'phone': '+39 02 2643 5628'}], 'overallOfficials': [{'name': 'Irene Franco, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'IRCCS Ospedale San Raffaele'}, {'name': 'Alessandro Larcher, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'IRCCS Ospedale San Raffaele'}, {'name': 'Andrea Salonia, MD', 'role': 'STUDY_CHAIR', 'affiliation': 'IRCCS Ospedale San Raffaele'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS San Raffaele', 'class': 'OTHER'}, 'collaborators': [{'name': 'Università Vita-Salute San Raffaele', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Doctor', 'investigatorFullName': 'Irene Franco', 'investigatorAffiliation': 'IRCCS San Raffaele'}}}}