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

Launched by NANTES UNIVERSITY HOSPITAL · Oct 12, 2023

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the effects of different genetic changes in the KCNH2 gene, which is linked to a heart condition called Long QT Syndrome (LQT2). LQT2 can cause serious heart rhythm problems, and researchers want to gather information about the many variants (or mutations) of the KCNH2 gene that have been identified. By building a comprehensive database, they hope to determine which variants are harmful and how they affect heart function. This information is essential for diagnosing LQT2 accurately, advising patients on their treatment options, and improving their overall care.

To be eligible for this trial, participants need to have a mutation in the KCNH2 gene. The study is open to all genders and age groups, and the only requirement to be excluded is if someone chooses not to participate. Those who join the trial can expect to contribute to important research that could lead to better understanding and management of Long QT Syndrome. The trial will also look into how certain medications might affect patients with these genetic changes, helping to identify any risks involved.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients carrier of a mutation in KCNH2 gene
• Exclusion Criteria:
• • Patients who refuse to take part to research