NCT06647927

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

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 350 (estimated)
• Sponsor: IRCCS Policlinico S. Donato · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

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.

Conditions

• Brugada Syndrome (BrS)

Timeline

• Start date: 2024-12-02
• Primary completion: 2026-05-01
• Completion: 2026-09-01
• First posted: 2024-10-18
• Last updated: 2025-05-14

Locations

1 site across 1 country: Italy