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

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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Key information

Conditions

Brugada Syndrome (BrS) Arrhythmias, Cardiac Brugada Syndrome Cardiac Conduction System Disease Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Irccs Policlinico San Donato

San Donato Milanese, Milan, 20097, Italy

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

None

Treatment and study plan

Primary outcomes

Multigenic Risk Score (MRS)

Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Giuseppe Ciconte MD, PhD

CONTACT

[email protected]

+390252774260

Sponsors and collaborators

Lead sponsor

IRCCS Policlinico S. Donato

Other

Collaborators

Azienda Ospedaliero Universitaria di Sassari
The National Research Council, Italy

Registry information

Official study title

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

Acronym: GenLaB

Important dates

Study start: 2024
Primary completion: 2026
Study completion: 2026
First posted: Oct 18, 2024
Registry last updated: May 14, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Recruiting