Louise R. Rodino‐Klapac

Two-Year Outcomes Following Delandistrogene Moxeparvovec Treatment in Ambulatory Patients with Duchenne Muscular Dystrophy: Phase 3 EMBARK Trial

Jerry R. Mendell, Francesco Muntoni, Craig M. McDonald, Eugenio M. Mercuri et autres

INTRODUCTION: vector genomes/kg) in ambulatory male patients with DMD aged 4 to < 8 years; N = 125. One-year results demonstrated the manageable safety of delandistrogene moxeparvovec, consistent with previous clinical trials. The primary endpoint (change from baseline in North Star Ambulatory …

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Pharmacokinetic and Pharmacodynamic Evaluation of Bidridistrogene Xeboparvovec in an Aged Murine Model of Limb-Girdle Muscular Dystrophy Type 2E/R4

Stephen Baine, Young-Eun Seo, A. Kempton, Oliver C. Rogers et autres

Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is an ultra-rare autosomal recessive disorder caused by mutations in SGCB , the gene that encodes for β-sarcoglycan (SGCB), a component of the dystrophin-associated protein complex that stabilizes muscle fibers during contractions. Bidridistrogene xeboparvovec is an …

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Long-Term Functional Outcomes, Safety, and Micro-Dystrophin Expression Following Delandistrogene Moxeparvovec Treatment in DMD: EMBARK 2-Year Results

I. Seelmann, J. Mendell, Francesco Muntoni, Craig M. McDonald et autres

Background/Purpose: Delandistrogene moxeparvovec (rAAVrh74 vector-based gene therapy approved in the United States and other select countries) delivers a transgene encoding micro-dystrophin, an engineered, functional form of dystrophin that stabilizes/slows Duchenne muscular dystrophy (DMD) progression. EMBARK (NCT05096221), a Phase 3, randomized, double-blind, placebo-controlled, …

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80PDelandistrogene moxeparvovec in Duchenne muscular dystrophy: long-term EMBARK 2-year functional outcomes, safety, and micro-dystrophin expression

Francesco Muntoni, J. Mendell, C. McDonald, E. Mercuri et autres

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Limb-Girdle Muscular Dystrophy Scientific Workshop

Matthew Wicklund, Lindsay N. Alfano, Nicholas E. Johnson, Peter B. Kang et autres

Limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that generally result in weakness and loss of limb-girdle muscles, leading to severe disability and early mortality due to cardiac and respiratory complications. Heterogeneity across and within individual LGMD subtypes in …

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Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy

Krista Vandenborne, Glenn A. Walter, Volker Straub, Rebecca J. Willcocks et autres

Importance: Delandistrogene moxeparvovec is a recombinant adeno-associated virus rhesus isolate serotype 74 vector-based gene transfer therapy for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed pathogenic variant of the DMD gene. In a subset of patients in the …

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Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy

Rachael A. Potter, Ida Moeller, Sohrab Khan, Hélène Haegel et autres

Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvovec micro-dystrophin, an engineered, functional form of dystrophin shown to stabilize or slow disease progression in DMD. It is approved in the US and in other select …

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Long-Term Survival and Myocardial Function Following Systemic Delivery of Delandistrogene Moxeparvovec in DMD MDX Rats

Stephen Baine, Chris Wier, Luke R. Lemmerman, Grace Cooper-Olson et autres

Delandistrogene moxeparvovec is a gene transfer therapy for Duchenne muscular dystrophy (DMD) that uses an adeno-associated viral vector to deliver a micro-dystrophin transgene to skeletal and cardiac muscle. This study evaluated the long-term survival and cardiac efficacy of delandistrogene moxeparvovec in a …

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Characterization of Nonclinical Drug Metabolism and Pharmacokinetic Properties of Phosphorodiamidate Morpholino Oligonucleotides, a Novel Drug Class for Duchenne Muscular Dystrophy

Andrew K.L. Goey, Marie Claire Mukashyaka, Yogesh T. Patel, Louise R. Rodino‐Klapac et autres

Eteplirsen, golodirsen, and casimersen are phosphorodiamidate morpholino oligomers (PMOs) that are approved in the United States for the treatment of patients with Duchenne muscular dystrophy (DMD) with mutations in the DMD gene that are amenable to exon 51, 53, and 45 skipping, …

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AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial

Jerry R. Mendell, Francesco Muntoni, Craig M. McDonald, Eugenio Mercuri et autres

Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result in the absence of functional dystrophin, beginning at birth and leading to progressive impaired motor function, loss of ambulation and life-threatening cardiorespiratory …

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423P Safety and efficacy of delandistrogene moxeparvovec versus placebo in Duchenne muscular dystrophy: phase 3 EMBARK primary results

J. Mendell, F. Muntoni, Craig M. McDonald, E. Mercuri et autres

Safety and Efficacy of Delandistrogene Moxeparvovec versus Placebo in Duchenne Muscular Dystrophy (EMBARK): Pivotal Phase 3 Primary Results

I. Seelmann, J. Mendell, Francesco Muntoni, Craig M. McDonald et autres

Background/Purpose: Duchenne muscular dystrophy (DMD) is caused by DMD gene mutations. Delandistrogene moxeparvovec is an adeno-associated viral vector-based gene transfer therapy, designed to compensate for absent functional dystrophin in DMD by delivering a transgene encoding engineered micro-dystrophin, which retains key functional wild-type …

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