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Updated: Jul 14, 2026
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Protocol for using MYOD1-transduced human urine-derived cells as a predictive platform for exon skipping therapy in
Katsuhiko Kunitake1, Takami Ishizuka2, Eri Takeshita3
1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan.
Abstract:
Antisense oligonucleotide (ASO)-based exon skipping is a splice-modulating therapy effective for Duchenne muscular dystrophy (DMD) caused by dystrophin deficiency. Here, we present a protocol for evaluating exon skipping efficacy in MYOD1-transduced human urine-derived cells (MYOD1-UDCs) from patients. We describe steps for isolating UDCs, selecting CD90-positive cells, inducing myogenic differentiation, and assessing the restoration of DMD mRNA and proteins after exon skipping. This platform enhances the predictability of ASO screening, promoting early-stage drug discovery and translational research in DMD. For complete details on the use and execution of this protocol, please refer to Komaki et al.1.
