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Sarepta has completed the ESSENCE study, which is a confirmatory trial aimed at supporting full FDA approval of the exon-skipping PMOs Amondys 45 and Vyondys 53.  The study did reinforce the favorable safety profile of the therapies, but did not achieve statistical significance on the primary endpoint  (4-step ascend velocity at 96 weeks).  What comes…

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Solid Biosciences today reported an update on the progress of the INSPIRE DUCHENNE open label, Phase I/II clinical trial with SGT-003 and their planned regulatory discussions in 2026. 23 Pediatric participants have been dosed (1E14vg/kg) so far in the INSPIRE DUCHENNE trial (data cutoff 31st October). SGT-003 was generally well tolerated, there were no cases of…

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In August, Quest had the privilege of spotlighting published authors living with neuromuscular disease and sharing their books in celebration of National Read A Book Day. With so many talented and accomplished writers in our community and holiday shopping right around the corner, the second installment of our Spotlight on Community Authors blog series is…

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Last weekend, my husband and I cleaned out our storage unit. My husband loves that unit, while I feel like we need one so that we don’t accumulate too much stuff around the house. We started renting it two years ago when we were hosting our oldest son’s high school graduation party in the garage.…

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In a deal worth roughly $12 billion, pharmaceutical giant Novartis has agreed to acquire Avidity Biosciences, to develop several promising experimental therapies for various types of muscular dystrophy. The core of the acquisition is Avidity’s antibody-oligonucleotide conjugate (AOC) platform. This innovative technology attaches a small piece of RNA (an oligonucleotide) to an antibody. Essentially, the…

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RegenXBio announced that they have completed enrollment in the Phase 1/2 portion of their RGX-202 microdystrophin gene therapy trial, with topline data expected in Q2 2026.  They are continuing to enroll participants aged 1 year and above in the confirmatory trial, and have initiated manufacturing of commercial supply of drug. Read more here: https://ir.regenxbio.com/news-releases/news-release-details/regenxbio-announces-completion-pivotal-enrollment-and-initiates The…

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It’s that time of year when we come together to connect, share, learn—while accelerating progress in neuromuscular (NMD) healthcare and scientific progress. This conference is one of the most meaningful gatherings in the (NMD) community—bringing together clinicians, researchers, industry partners, advocates and individuals living with NMD. The four-day conference promises rich content, networking, and collaboration…

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Neuropathy ataxia and retinitis pigmentosa (NARP) syndrome is a rare, maternally-inherited condition caused by mutations in mitochondrial DNA, affecting the energy-producing structures within cells. The condition typically begins in childhood or early adulthood and presents with a wide range of symptoms. These may include learning difficulties, muscle weakness (particularly around the eyes), uncoordinated movements (ataxia),…

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I have a growing list of limitations, as a result of my facioscapulohumeral muscular dystrophy (FSHD), my blindness, and other injuries from a long-ago head-on collision with a drunk driver. My wife, Wendy, and my daughter Jill, who are my primary caregivers, provide essential help every day: preparing meals, doing the laundry, and much more.…

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Use of the oral therapy BBP-418 appeared to improve walking ability and lung function in people with limb-girdle muscular dystrophy type 2i (LGMD2i) — characterized by muscle wasting at the shoulders and the hips — in a Phase 3 clinical trial, according to new interim data announced by developer Bridgebio Pharma. The experimental therapy was…

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