Kenji Rowel Q. Lim

TL;DR: Eteplirsen is a drug that acts to promote dystrophin production by restoring the translational reading frame of DMD through specific skipping of exon 51 in defective gene variants, which is applicable for approximately 14% of patients with DMD mutations.

TL;DR: It is shown that systemic multiexon skipping using a cocktail of peptide-conjugated morpholinos (PPMOs) rescued dystrophin expression in the myocardium and cardiac Purkinje fibers in a dystrophic dog model and leads to the improvement/prevention of cardiac conduction abnormalities in the Dystrophic heart.

TL;DR: An update on DMD genotype-phenotype associations using a global DMD database is provided and the rationale for multiple exon skipping development is provided, particularly for exons 45–55 skipping and an emerging therapeutic concept, exons 3–9 skipping.

TL;DR: The efficacy of exon 51 skipping and rescue of dystrophin protein expression were increased by up to more than 12-fold and 7-fold, respectively, compared with the eteplirsen sequence, highlighting the importance of AO sequence optimization for exon skipping.

TL;DR: This review summarizes the various CRISPR/Cas9 strategies that have been tested in vitro and in vivo for the treatment of DMD and discusses the challenges faced in its translation into the clinic.