Nucleic acids research · 2025
AOC 1044 induces exon 44 skipping and restores dystrophin protein in preclinical models of Duchenne muscular dystrophy.
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Etxaniz Usue, Marks Isaac, Albin Tyler, Diaz Matthew, Bhardwaj Raghav, Anderson Aaron, Tyaglo Olecya, Hoang Tiffany, Missinato Maria Azzurra, Svensson Kristoffer, Badillo Ben, Kovach Philip R, Leung Laura, Cochran Michael, Kwon Hae Won, Ahad Shah Md Nur, Maruyama Rika, Yokota Toshifumi, Doppalapudi Venkata R, Darimont Beatrice, Younis Husam S, Flanagan W Michael, Levin Arthur A, Huang Hanhua, Karamanlidis Georgios
Аннотация
Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutations in the dystrophin gene, resulting in loss of functional dystrophin protein in muscle. While phosphorodiamidate morpholino oligomers (PMOs) are promising exon-skipping therapeutics aimed at restoring dystrophin expression, their effectiveness is often limited by poor muscle delivery. We developed AOC 1044, an antibody-oligonucleotide conjugate (AOC) that combines a PMO-targeting exon 44 with an antibody against the transferrin receptor (TfR1), enhancing delivery to muscle tissues for patients with DMD amenable to exon 44 skipping (DMD44). AOC 1044 induces dose-dependent exon 44 skipping and its mouse-active variant elicited dose-dependent dystrophin restoration in skeletal and cardiac muscle in a DMD mouse model. This treatment also reduced muscle damage, as evidenced by decreases in serum creatine kinase and key liver enzymes, suggesting that restored dystrophin is functionally active. In nonhuman primates, single or repeated AOC 1044 doses resulted in dose-dependent increases in PMO concentration and exon 44 skipping across a range of muscle tissues, including the heart. Collectively, these findings highlight AOC 1044 as a promising therapeutic candidate for patients with DMD44, offering improved muscle targeting and meaningful dystrophin restoration, with potential clinical benefits in reducing muscle degeneration.