Design and status of the first gene therapy for DOK7 Congenital Myasthenic Syndrome - a University of Tokyo invention

DOK7 CMS (Congenital Myasthenic Syndrome) is a rare disease in which DOK7 mutations produce small, defective neuromuscular junctions, manifesting at birth as hypotonia, difficulty breathing/feeding, leading to limb-girdle patterns of weakness, apneic spells, and severe scoliosis. Salbutamol, the standard of care, gives modest and transient benefit; no disease-modifying treatment exists. This presentation will cover the work that underpins the first DOK7 CMS trial, scheduled for November 2026, with initial safety data expected in 2027.