Building of a Diagnostic/Prognostic Database by High-throughput Multiplexed Assays for Human ERG Variant Effects

What this Trial Is About

Long QT Syndrome is a condition caused by cardiac channelopathies that affect heart rhythm or conduction, often linked to mutations in the KCNH2 gene encoding the human ERG channel. These mutations cause inherited LQT2 and the ERG channel is also involved in drug-induced (acquired) LQT2. Hundreds of KCNH2 variants have been identified, but many lack clear functional significance, making it difficult to diagnose and manage patients effectively. This research aims to address these uncertainties by evaluating the effects of these variants on the channel's behavior and structure, which is vital for accurate diagnosis and treatment planning. The study involves creating a large-scale, multi-functional assessment of KCNH2 gene variants and developing a comprehensive diagnostic and prognostic database. This database will collect and organize clinical and genetic information from French reference centers, applying international guidelines for pathogenicity annotation. It will also include pharmacological studies to understand how different drugs may influence acquired LQT2 severity depending on variant location within the channel. Participants who carry a mutation in the KCNH2 gene will be included. Researchers will collect data over 42 months to develop a database that lists gene variants and their clinical impact, and to classify these variants based on their sensitivity to certain drugs. The study does not involve investigational treatments but focuses on observation and data collection to improve understanding and management of Long QT Syndrome.

Building of a Diagnostic/Prognostic Database for Human ERG Variant Effects