GenLab: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis

NCT06647927 — Recruiting, 350 participants, IRCCS Policlinico S. Donato

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Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis

Registry	NCT06647927, acronym GenLaB
Status	Recruiting
Study type	Observational
Enrollment	350 (Estimated)
Sponsor	IRCCS Policlinico S. Donato (Other); collaborators: Azienda Ospedaliero Universitaria di Sassari, The National Research Council, Italy
Conditions	Brugada Syndrome (BrS)
Dates	start 2024-12-02, primary completion 2026-05-01 (estimated), completion 2026-09-01 (estimated), first posted 2024-10-18, last updated 2025-05-14
Locations	1 site in Italy

-Summary

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.

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+Detailed description

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.

+Arms and interventions

Arm	Type	Interventions	Description
BrS Affected			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.

+Outcome measures

Primary outcomes

Multigenic Risk Score (MRS) [from October 2025 to June 2026]: Our objective is to utilize the extensive Whole-Exome Sequencing (WES) data from our cohort to discover shared genetic mechanisms underlying BrS. We 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.

+Eligibility

Sex: All, ages: 18 Years to any

Inclusion Criteria:

* Age > 18 years
* Patients affected by Brugada Syndrome
* Patients who signs the Informed Consent

Exclusion Criteria:

* None

+Locations (1)

Facility	City	Country	Status
Irccs Policlinico San Donato	San Donato Milanese, Milan	Italy	Recruiting

My Notes

Public

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