Advancing Care With Exon Skipping Therapies for Duchenne Muscular Dystrophy: Vamshi Rao, MD


The associate professor of pediatrics in neurology and epilepsy at Northwestern University Feinberg School of Medicine discussed the FDA-cleared phase 1/2 trial of an exon 50 skipping therapy to address the specific mutations causing Duchenne muscular dystrophy. [WATCH TIME: 6 minutes]

WATCH TIME: 6 minutes

"In the early stages of a trial like this, safety is paramount. As we progress, we focus on efficacy markers, seeking positive changes in function, muscle biopsy results, and correlated dystrophin protein levels."

Duchenne muscular dystrophy (DMD), a progressive genetic disease, is caused by mutations of the dystrophin gene on the X chromosome which is responsible for the production of dystrophin protein. The levels of dystrophin contribute to structural support in the muscle cells and mutations result in dystrophin protein deficiency, causing damage in the muscles and the associated clinical presentation.1 One of the treatment agents with the ability to partially restore dystrophin protein in patients with DMD are exon skipping therapies such as the NS-050/NCNP-03 program.

Recently, the FDA cleared the start of a phase 1/2 study assessing NS-050/NCNP-03, NS Pharma’s investigational candidate for patients with DMD amenable to exon 50 skipping therapy.2 Enrollment for the clinical trial in the US is planned to begin in the second half of 2023 and will be led by NS Pharma’s parent company, Nippon Shinyaku. In the trial, patients with DMD will be assessed on dystrophin production, muscle strength, mobility, and functional exercise capacity. Once the trial is ready to begin the enrollment of participants, NS Pharma noted that additional information will then be provided.

Following the recent news, lead investigator Vamshi Rao, MD, associate professor of pediatrics in neurology and epilepsy, at Northwestern University Feinberg School of Medicine, sat down in an interview with NeurologyLive® to talk about how exon skipping therapies like NS-050/NCNP-03 work to address the mutations responsible for DMD. He also discussed the primary focus of the phase 1/2 trial, and why safety is considered a crucial aspect at this stage of the study. In addition, Rao spoke about how researchers hope to correlate changes in dystrophin protein levels with improvements in muscle function among patients with DMD using NS-050/NCNP-03 during the trial.

1. Czifrus E, Berlau DJ. Viltolarsen: a treatment option for Duchenne muscular dystrophy patients who are amenable to exon 53 skipping therapy. Expert Rev Neurother. 2023;1-6. doi:10.1080/14737175.2023.2246658
2. NS Pharma Announces FDA Clearance to Initiate a Phase I/II Study for NS-050/NCNP-03, an Exon 50 Skipping Candidate for the Treatment of Duchenne Muscular Dystrophy. News Release. NS Pharma. Published June 15, 2023. Accessed August 14, 2023.
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