BrAID: Brugada Syndrome and Artificial Intelligence Applications to Diagnosis
Study Details
Study Description
Brief Summary
Aim of the project is the development of an integrated platform, based on machine learning and omic techniques, able to support physicians in as much as possible accurate diagnosis of Type 1 Brugada Syndrome (BrS).
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
Detailed Description
The aim of BrAID project is to integrate classic clinical guidelines for Brugada Syndrome 1 diagnosis evaluation with innovative Information and Communication Technologies and omic approaches, generating new diagnostic strategies in cardiovascular precision medicine of this disease.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Experimental: Patients affected by Brugada Syndrome 1 Patients with spontaneous or drug-induced Brugada Syndrome 1 |
Diagnostic Test: Patients affected by Brugada Syndrome 1
ECG analysis by Machine Learning algorithms and blood collection for the transcriptomic study of markers possibly associated with the disease
|
| Active Comparator: Controls Patients with no condition associated with spontaneous or drug-induced Brugada Syndrome 1 |
Diagnostic Test: Patients affected by Brugada Syndrome 1
ECG analysis by Machine Learning algorithms and blood collection for the transcriptomic study of markers possibly associated with the disease
|
Outcome Measures
Primary Outcome Measures
- Machine Learning recognition of Brugada Syndrome 1 [Week 20]
Identification of Brugada type 1 Syndrome coved ST component in a cohort of 44 patients (prospective study) and validated in a cohort of 100 patients (validation study) according to the diagnostic patterns related to Brugada Syndrome 1 on 12-leads ECG as already published on current international guidelines
- Machine Learning recognition of Brugada Syndrome 1 [Week 20]
Identification of Brugada type 1 Syndrome QRS fragmentation component in a cohort of 44 patients (prospective study) and validated in a cohort of 100 patients (validation study) according to the diagnostic patterns related to Brugada Syndrome 1 on 12-leads ECG as already published on current international guidelines
- Machine Learning recognition of Brugada Syndrome 1 [Week 20]
Identification and characterization of Brugada type 1 Syndrome T segment depression component in a cohort of 44 patients (prospective study) and validated in a cohort of 100 patients (validation study) according to the diagnostic patterns related to Brugada Syndrome 1 on 12-leads ECG as already published on current international guidelines
- Machine Learning recognition of Brugada Syndrome 1 [Week 20]
Identification of Brugada type 1 Syndrome broad P wave with PQ prolongation component in a cohort of 44 patients (prospective study) and validated in a cohort of 100 patients (validation study) according to the diagnostic patterns related to Brugada Syndrome 1 on 12-leads ECG as already published on current international guidelines
Secondary Outcome Measures
- Biomarkers associated with Brugada Syndrome 1 [week 48]
Identification of biomarkers associated with Brugada Syndrome 1 by the means of blood transcriptomic profile and exosomes analysis of patients. Transcriptomic and exosome could provide new insight into the pathophysiology of signalling in this pathology, as well as for application in Brugada Syndrome 1 diagnosis and therapeutics. Transcriptomic will provide a global picture of phenotypical changes associated with the disease, highlighting the potential genes involved in the development of Brugada Syndrome 1 The analysis of exosome coding and noncoding RNAs, participating in a variety of basic cellular functions, could also evidence potentially important pathophysiologic effects both in cardiac cells as well as on the release of electrical stimuli. The study will be performed in a cohort of 44 patients (prospective study) and results will be validated in a cohort of 100 patients (validation study)
- Stratification risk [week 64]
Development of stratification risk system for Brugada type 1 Syndrome by the integration of ECG Machine Learning algorithms and biomarkers. In particular, the module will combine the peculiar ECG patterns associated with BrS (coved ST, QRS fragmentation, T segment depression, broad P wave with PQ prolongation)(outcome 1-4) and omic (genes) and exosome markers (coding and noncoding RNAs)(outcome 5) with the aim to improve patient risk stratification. Specifically, gene expression modulation (expressed as % respect to control population) of Na+ (e.g., Nav1.5, Nav1.3, Nav2.1), Ca2+ (e.g. Cav3.1, HCN3) and K+ channels (e.g.,TWIK1, Kv4.3) will be evaluated. The study will be performed in a cohort of 44 patients (prospective study) and results will be validated in a cohort of 100 patients (validation study).
Eligibility Criteria
Criteria
Inclusion Criteria:
-
Brugada patients: patients with Brugada Syndrome 1 spontaneous or induced by the ajmaline test; patients with non-diagnostic electrocardiographic pattern for Brugada Syndrome 1 or negative in the presence of high clinical suspicion (family history for Brugada Syndrome, patients who survived cardiac arrest without organic heart disease)
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Control patients: patients with frequent premature ventricular complex and normal left and right ventricular function; patients with suspected Brugada Syndrome 1 not confirmed by ajmaline test
Exclusion Criteria:
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organic heart disease or diseases interfering with protocol completion
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lack of signed informed consent
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pregnancy
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acute coronary artery disease, heart failure in the previous 3 months
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severe renal or liver failure
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Azienda USL Toscana Sud Est - U.O.C Cardiologia | Arezzo | Tuscany | Italy | 52100 |
| 2 | Azienda Ospedaliera Universitaria Careggi - SOD Aritmologia | Firenze | Tuscany | Italy | 50134 |
| 3 | Azienda Ospedaliero Universitaria Pisana - Cardiologia 2 | Pisa | Tuscany | Italy | 56100 |
| 4 | Fondazione Toscana Gabriele Monasterio | Pisa | Tuscany | Italy | 56124 |
| 5 | Istituto di Fisiologia Clinica IFC-CNR | Pisa | Tuscany | Italy | 56124 |
| 6 | Azienda Usl Toscana Nord Ovest - U.O.C. Cardiologia | Viareggio | Tuscany | Italy | 55049 |
Sponsors and Collaborators
- Istituto di Fisiologia Clinica CNR
- Fondazione Toscana Gabriele Monasterio
- Azienda USL Toscana Sud Est
- Azienda USL Toscana Nord Ovest
- Azienda Ospedaliero-Universitaria Careggi
- Azienda Ospedaliero, Universitaria Pisana
Investigators
- Principal Investigator: Federico Vozzi, Ph.D., Istituto di Fisiologia Clinica
Study Documents (Full-Text)
None provided.More Information
Publications
- Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Brugada syndrome: report of the second consensus conference. Heart Rhythm. 2005 Apr;2(4):429-40. Review. Erratum in: Heart Rhythm. 2005 Aug;2(8):905.
- Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992 Nov 15;20(6):1391-6.
- Quan XQ, Li S, Liu R, Zheng K, Wu XF, Tang Q. A meta-analytic review of prevalence for Brugada ECG patterns and the risk for death. Medicine (Baltimore). 2016 Dec;95(50):e5643. doi: 10.1097/MD.0000000000005643.
- Sarquella-Brugada G, Campuzano O, Arbelo E, Brugada J, Brugada R. Brugada syndrome: clinical and genetic findings. Genet Med. 2016 Jan;18(1):3-12. doi: 10.1038/gim.2015.35. Epub 2015 Apr 23. Review.
- Vutthikraivit W, Rattanawong P, Putthapiban P, Sukhumthammarat W, Vathesatogkit P, Ngarmukos T, Thakkinstian A. Worldwide Prevalence of Brugada Syndrome: A Systematic Review and Meta-Analysis. Acta Cardiol Sin. 2018 May;34(3):267-277. doi: 10.6515/ACS.201805_34(3).20180302B. Erratum in: Acta Cardiol Sin. 2019 Mar;35(2):192.
- Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, Corrado D, Hauer RN, Kass RS, Nademanee K, Priori SG, Towbin JA; Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology. Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J. 2002 Nov;23(21):1648-54. Review.
- BrAID