Viewing Study NCT06647927


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Ignite Modification Date: 2025-12-26 @ 4:09 AM
Study NCT ID: NCT06647927
Status: RECRUITING
Last Update Posted: 2025-05-14
First Post: 2024-10-16
Is NOT Gene Therapy: False
Has Adverse Events: False

Brief Title: GenLab: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis
Sponsor: IRCCS Policlinico S. Donato
Organization:

Study Overview

Official Title: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis
Status: RECRUITING
Status Verified Date: 2025-05
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: GenLaB
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.
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.

Study Oversight

Has Oversight DMC: False
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: