Precision Medicine for Long QT Syndrome Type 2: Lumacaftor Corrects Trafficking Defects and Shortens QT Interval

Highlight

This phase 2 clinical trial provides the first human evidence that lumacaftor, a drug known for correcting protein trafficking defects in cystic fibrosis, can significantly reduce the corrected QT interval (QTc) in patients with long QT syndrome type 2 (LQT2) caused by KCNH2 mutations leading to hERG trafficking defects. Patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) confirmed cellular rescue in variant-dependent fashion, mirroring clinical outcomes. This translational approach supports precision medicine targeting mechanistic subtypes of inherited arrhythmias.

Study Background and Disease Burden