2023年9月12日 · We now demonstrate that CRISPR-SKIP can be adapted to correct some forms of Duchenne muscular dystrophy by disrupting the splice acceptor in human DMD exon 45 with high efficiency, which enables open reading frame recovery and restoration of …

2021年2月25日 · Today, the U.S. Food and Drug Administration granted approval for Amondys 45 (casimersen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed...

2024年10月1日 · Deletion of 45 – 55 DMD exons (del45 – 55) was described in asymptomatic subjects, but recently serious skeletal and cardiac complications have been reported. Uncovering why a single mutation like del45–55 is able to induce diverse phenotypes and grades of severity may impact the strategies of emerging therapies.

Here, we show the selection of U1 snRNA-antisense constructs able to confer effective rescue of dystrophin synthesis in a Δ44 Duchenne genetic background, through skipping of exon 45; moreover, we demonstrate that the resulting dystrophin is able to recover timing of myogenic marker expression, to relocalize neuronal nitric oxide synthase ...

AMONDYS 45 is used to treat patients with Duchenne muscular dystrophy (DMD) who have a confirmed mutation of the dystrophin gene that can be treated by skipping exon 45. This indication is approved under accelerated approval based on an increase in dystrophin production in skeletal muscle observed in patients treated with AMONDYS 45.

Exon skipping is a mutation-specific approach. Which exon is skipped depends on the size and location of the mutation. For example, Casimersen, an exon 45 skipping molecule, is an intravenous infusion drug that binds to exon 45 of the dystrophin gene …

2023年7月27日 · We now demonstrate that CRISPR-SKIP can be adapted to correct some forms of Duchenne muscular dystrophy by disrupting the splice acceptor in human DMD exon 45 with high efficiency, which enables open reading frame recovery and restoration of …

The most common single exon deletion-exon 45 (Δ45)-may theoretically be treated by skipping of either flanking exon (44 or 46). We sought to predict the impact of these by assessing the clinical severity in dystrophinopathy patients.

We now DMD demonstrate that CRISPR-SKIP can be adapted to correct some forms of Duchenne muscular dystrophy by disrupting the splice acceptor in human exon 45 with high DMD efficiency, which enables open reading frame recovery and restoration of dystrophin expression.

2024年10月1日 · Treatment of DMD patient-derived skeletal and cardiac muscle cells harboring an exon 45 amenable mutation deletion demonstrated robust, dose-dependent exon 45 skipping and dystrophin production. In vivo exon skipping efficacy of ENTR-601-45 was confirmed in both cardiac and skeletal muscle of human dystrophin expressing (hDMD).