Antisense oligonucleotide (ASO) treatment has therapeutic potential in a severe form of Charcot–Marie–Tooth disease (CMT), according to a study published in Brain. The findings, in an induced pluripotent stem cell (iPSC)-derived model, provide a proof of concept with potential for clinical application.

In the new study, Medina and colleagues generated an iPSC-derived motor neuron model of CMT2E p.N98S. They used this model to investigate the molecular pathogenesis of the disease and to determine whether an ASO treatment could reduce markers of axonal injury.