Alagille Syndrome
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Genetic and Congenital

Systemic delivery of micro-dystrophin gene therapy appears to be well-tolerated in children with Duchenne muscular dystrophy

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The investigational gene transfer therapy, rAAVrh74.MHCK7.micro-dystrophin, is safe and tolerability after 1 year in patients with Duchenne muscular dystrophy (DMD) , according to a study published in JAMA Neurology. Treatment was associated with robust micro-dystrophin expression, reduced serum creatine kinase levels, and functional improvement.

In this open-label, phase 1/2a nonrandomized controlled trial, 4 children without preexisting AAVrh74 antibodies and a stable corticosteroid dose (≥12 weeks) received a single dose of 2.0 × 1014 vg/kg rAAVrh74.MHCK7.micro-dystrophin infused through a peripheral limb vein.

Minimal mild and moderate adverse events and no serious adverse events were reported.

“We are encouraged by the successful and safe systemic delivery of our micro-dystrophin transgene from our AAVrh74 viral capsid and targeted muscle expression results, demonstrating the safety and efficacy of SRP-9001 gene transfer maintained over one year in this cohort of participants living with Duchenne muscular dystrophy,” said Louise Rodino-Klapac, PhD, senior vice president of gene therapy, Sarepta Therapeutics, in a press release. “Following the 9-month update we shared last year, the peer-reviewed publication of these results in JAMA Neurology further supports the potential for SRP-9001 to provide clinically meaningful functional improvements in terms of speed and magnitude of improvement for patients with DMD.  Study 102, our randomized, double-blind, placebo-controlled study of SRP-9001, is ongoing and we look forward to sharing the results in early 2021 as we work toward our ultimate goal of profoundly improving the lives of as many patients living with DMD as possible.”


Mendell JR, Sahenk Z, Lehman K, et al. Assessment of systemic delivery of rAAVrh74.MHCK7.micro-dystrophin in children with Duchenne muscular dystrophyA nonrandomized controlled trialJAMA Neurol. Published online June 15, 2020. doi:10.1001/jamaneurol.2020.1484