Italian researchers test innovative therapy for Long QT syndrome

Italian researchers have identified a potential new therapy for Long QT syndrome type 2 (LQT2), a hereditary heart condition that increases the risk of cardiac arrest. Results from the phase 2 Mast2 clinical trial, published in the ‘European Heart Journal’, suggest that a combination of lumacaftor and ivacaftor—drugs previously used to treat cystic fibrosis—may be effective for certain patients.

The study, coordinated by Lia Crotti and Peter Schwartz of the Irccs Istituto Auxologico Italiano, focused on 16 adult patients with specific variants of the Kcnh2 gene. These variants cause a ‘trafficking’ defect, preventing the mutated protein from reaching the cell membrane to regulate the heart's electrical activity.

During the seven-day hospital-based trial, patients underwent continuous electrocardiographic monitoring. The treatment was found to be safe and resulted in a statistically significant reduction of the QT interval, addressing the primary electrocardiographic abnormality associated with the disease and its associated arrhythmia risks.