Ignite Creation Date:
2025-12-25 @ 5:06 AM
Ignite Modification Date:
2025-12-26 @ 4:09 AM
Study NCT ID:
NCT06647927
Status:
RECRUITING
Last Update Posted:
2025-05-14
First Post:
2024-10-16
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
GenLab: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D053840', 'term': 'Brugada Syndrome'}], 'ancestors': [{'id': 'D001145', 'term': 'Arrhythmias, Cardiac'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D000075224', 'term': 'Cardiac Conduction System Disease'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 350}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-12-02', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-05', 'completionDateStruct': {'date': '2026-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-13', 'studyFirstSubmitDate': '2024-10-16', 'studyFirstSubmitQcDate': '2024-10-16', 'lastUpdatePostDateStruct': {'date': '2025-05-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-10-18', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-05', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Multigenic Risk Score (MRS)', 'timeFrame': 'from October 2025 to June 2026', 'description': 'Our objective is to utilize the extensive Whole-Exome Sequencing (WES) data from our cohort to discover shared genetic mechanisms underlying BrS.\n\nWe will conduct rigorous quality control and genome-wide association analyses to identify both common and rare mutations related to BrS. We aim to develop a Multigenic Risk Score (MRS) based on the cumulative findings, considering the effects of associated variants on protein and gene expression levels, and chromatin structure. The MRS seeks to refine the BrS biomarker panel and develop a robust diagnostic tool for BrS by leveraging genetics, machine learning, and translational research.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Brugada Syndrome (BrS)']}, 'descriptionModule': {'briefSummary': "This research makes several significant contributions to the field of BrS. It employs advanced genetic sequencing techniques to develop a genetic signature to improve the accuracy and efficiency of BrS diagnosis. The identification of specific biomolecular profiles and genetic signatures enhances our understanding of the syndrome's molecular mechanisms, facilitating targeted therapies and refined risk stratification. These advancements optimize patient care by enabling personalized treatment plans and risk assessment. Overall, this research adds value by advancing diagnostic methods, providing molecular insights, optimizing patient care, and positively impacting public health outcomes in BrS.", 'detailedDescription': "Our work on BrS is dedicated to decipher the pathogenic mechanism and to ameliorate diagnostic approaches by developing a non-invasive test. Employing a multi-omic strategy, we've identified potential biomarkers across proteins, metabolites, and lipids, leading to a filed patent for a promising biomolecular signature. Additionally, we've discovered associated gene mutations. This grant proposal aims to enhance our preliminary findings by studying a larger BrS cohort, supported by a meticulously curated patient registry. By integrating advanced whole-exome sequencing (WES) and machine learning , we aim to identify a genetic signature for BrS diagnosis and uncover altered pathways integral to BrS etiology. This could refine risk stratification strategies, contributing to improved diagnostic accuracy and deeper understanding BrS molecular mechanisms."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': "A total of 350 patients affected by BrS coming from the same geographical area and age-sex balanced, when it's possible. The total sample includes at least 300 individuals from Sardinia, to whom pre-existing data of 100 patients will be added, already subject to the Whole Exome Sequencing (WES) at Policlinico San Donato.", 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age \\> 18 years\n* Patients affected by Brugada Syndrome\n* Patients who signs the Informed Consent\n\nExclusion Criteria:\n\n* None'}, 'identificationModule': {'nctId': 'NCT06647927', 'acronym': 'GenLaB', 'briefTitle': 'GenLab: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS Policlinico S. Donato'}, 'officialTitle': 'Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis', 'orgStudyIdInfo': {'id': 'PNRR-POC-2023-12378388'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'BrS Affected', 'description': 'The Study population will be composed by patients affected by the Brugada Syndrome, including both the ones already under teatment and subjects with new diagnosis.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20097', 'city': 'San Donato Milanese', 'state': 'Milan', 'status': 'RECRUITING', 'country': 'Italy', 'facility': 'Irccs Policlinico San Donato', 'geoPoint': {'lat': 45.41047, 'lon': 9.26838}}], 'centralContacts': [{'name': 'Giuseppe Ciconte MD, PhD', 'role': 'CONTACT', 'email': 'Giuseppe.Ciconte@grupposandonato.it', 'phone': '+390252774260'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS Policlinico S. Donato', 'class': 'OTHER'}, 'collaborators': [{'name': 'Azienda Ospedaliero Universitaria di Sassari', 'class': 'OTHER'}, {'name': 'The National Research Council, Italy', 'class': 'OTHER_GOV'}], 'responsibleParty': {'type': 'SPONSOR'}}}}