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

NCT06647927 | Recruiting

• 1 other identifier: PNRR-POC-2023-12378388
• Study Type: observational
• Target: 350
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Brugada Syndrome (BrS)

Outcome Measures

Primary Outcomes (1)

• Multigenic Risk Score (MRS)

  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.

  from October 2025 to June 2026

Study Arms (1)

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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.

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• Azienda Ospedaliero Universitaria di Sassari: collaborator
• The National Research Council, Italy: collaborator

Study Sites (1)

Irccs Policlinico San Donato

San Donato Milanese, Milan, 20097, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Brugada Syndrome

Condition Hierarchy (Ancestors)

Arrhythmias, Cardiac; Heart Diseases; Cardiovascular Diseases; Cardiac Conduction System Disease; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Giuseppe Ciconte MD, PhD

CONTACT

+390252774260; Giuseppe.Ciconte@grupposandonato.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 16, 2024
• First Posted: October 18, 2024
• Study Start: December 2, 2024
• Primary Completion: May 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: May 14, 2025

Record last verified: 2025-05

Locations

IT (1)