DUX4 transcript knockdown with antisense 2-O-methoxyethyl gapmers for the treatment of facioscapulohumeral muscular dystrophy

Immortalized myoblasts derived from a facioscapulohumeral muscular dystrophy (FSHD) patient and a healthy subject were grown and differentiated. FSHD patient-derived cells were either treated or not treated with a 2-MOE gapmer targeting knockdown of the DUX4 transcript. RNA sequencing was performed on total RNA extracts from these three groups (healthy, FSHD non-treated, and FSHD treated) to evaluate the efficacy of 2-MOE gapmer treatment at the transcriptomic level.