First successful gene therapy correction of live-threatening cardiac arrythmias in an animal model
Type 1 short QT syndrome (SQT1) is a genetic channelopathy caused by gain-of-function variants in KCNH2, resulting in shortened cardiac repolarization and QT intervals, which predispose patients to ventricular arrhythmias and sudden cardiac death. In our study published in the European Heart Journal, we investigated the therapeutic efficacy of a novel KCNH2-specific suppression-and-replacement (KCNH2- SupRep) gene therapy in our transgenic rabbit model of SQT1. We could demonstrate that KCNH2-SupRep corrects the disease phenotype on all levels, e.g., normalized the QT without increasing repolarization heterogeneity in vivo, resolves apicobasal APD heterogeneity in the whole heart, suggesting an antiarrhythmic effect confirmed by reduced re-entry-mediated arrhythmogenesis in silico. At the cellular levels, it prolongs APD, partially normalizes the ion current IKr, and restores electro-mechanical interplay. In sum, this study is the first to demonstrate the efficacy of gene therapy in restoring the physiological phenotype in a medium-sized animal model of SQT1, highlighting its potential for future clinical application.
Nimani et al., Eur Heart J. 2025