Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study

02 January 25 Articles ، Linda Pax Lowes ، Kevin Flanigan DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، درمان_ژنی ، الیگونوکلئوتید_آنتی_سنس ، Golodirsen ، Casimersen ، پرش_اگزون ، Dystrophin ، ClinicalTrial ، کازیمیرسن ، گولودیرسن
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
1. Introduction Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder predominantly affecting boys, with an incidence of approximately 1 in 5,000 male births. It is caused by mutations in the DMD gene that lead to disrupted production of dystrophin, a protein essential for muscle stability. Exon skipping is a therapeutic strategy that restores the reading frame of the mutated gene to enable dystrophin production. This study focuses on applying …
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Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy

28 December 24 Articles ، Annemieke Aartsma-Rus ، Judith van Deutekom DuchenneMuscularDystrophy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، antisenseoligonucleotide ، پرش_اگزون ، AntisenseOligonucleotide ، DystrophinRestoration ، NextGenerationTherapies ، PreclinicalResearch ، الیگونوکلئوتیدآنتی_سنس ، بازگردانی_دیستروفین ، تحقیقات_پیش_بالینی
Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy
Antisense oligonucleotides (AONs) have emerged as a promising therapy for Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease caused by dystrophin deficiency. Early AON drugs like drisapersen and eteplirsen achieved limited success, leading researchers to develop more efficient next-generation AONs. This study focused on refining AONs for exon 51 skipping through advanced chemical modifications and identifying optimal target sites to enhance efficacy and safety.   Researchers screened over 100 AONs …
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Exon-Skipping in Duchenne Muscular Dystrophy

05 December 24 Articles ، Eric P. Hoffman ، Paula R. Clemens ، Shin’ichi Takeda DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، OligonucleotideTherapy ، دیستروفی_عضلانی_دوشن ، پرش_اگزون ، Dystrophin ، MuscleDisorders ، درمان_ژن_درمانی ، دیستروفین ، درمان_الیگونوکلئوتیدی ، اختلالات_عضلانی
Exon-Skipping in Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene on the X chromosome. These mutations disrupt the production of the dystrophin protein, crucial for muscle stability and function. This review focuses on exon-skipping therapy, which uses genetic techniques to restore partial dystrophin production, converting the severe DMD phenotype to a milder Becker Muscular Dystrophy (BMD)-like condition. Exon-skipping therapy involves antisense oligonucleotides (AONs) that …
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Exon skipping and dystrophin restoration in patientswith Duchenne muscular dystrophy after systemicphosphorodiamidate morpholino oligomer treatment:an open-label, phase 2, dose-escalation study

17 November 24 Articles ، Volker Straub ، Ryszard Kole ، Steve Wilton ، George Dickson ، Karen Anthony ، Francesco Muntoni ، Virginia Arechavala-Gomeza ، Kate Bushby ، Jennifer Morgan DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، پرش_اگزون ، DystrophinRestoration ، AVI4658 ، PMO ، ژن تراپی ، بازیابی_دیستروفین
Exon skipping and dystrophin restoration in patientswith Duchenne muscular dystrophy after systemicphosphorodiamidate morpholino oligomer treatment:an open-label, phase 2, dose-escalation study
This study explored the effects of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO), on exon skipping and dystrophin restoration in Duchenne muscular dystrophy (DMD) patients. The open-label, phase 2, dose-escalation trial enrolled 19 boys aged 5-15, treated with doses ranging from 0.5 to 20 mg/kg weekly for 12 weeks. The main aim was to evaluate safety, with secondary goals to assess pharmacokinetics and the efficacy of exon 51 skipping and dystrophin …
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Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges

16 October 24 Articles ، Toshifumi Yokota ، Akinori Nakamura ، Yusuke Echigoya DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، BeckerMuscularDystrophy ، ExonSkipping ، antisenseoligonucleotide ، الیگونوکلئوتید_آنتی_سنس ، دیستروفی_عضلانی_بکر ، پرش_اگزون ، AntisenseOligonucleotide ، MultipleExonSkipping ، پرش_اگزون_چندگانه
Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
The paper titled "Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges" explores an advanced therapeutic strategy for treating Duchenne Muscular Dystrophy (DMD), a severe genetic disorder caused by mutations in the dystrophin gene. This mutation leads to the absence of functional dystrophin protein, which is essential for maintaining muscle integrity. One emerging treatment method involves antisense oligonucleotide (AO)-mediated exon skipping, where specific exons are skipped …
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Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

17 September 24 Articles ، Haluk Topaloglu DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، BeckerMuscularDystrophy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، Eteplirsen ، اتپلیرسن ، Viltolarsen ، Golodirsen ، Casimersen ، دیستروفی_عضلانی_بکر ، پرش_اگزون ، کاسیمیرسن ، گلودیرسن ، ویلتولارسن ، ژندرمانی ، الیگونوکلئوتید_ضدحسی
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy
Personal take on this article: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and weakness. In recent years, exon skipping therapy has emerged as a promising molecular treatment. This approach uses antisense oligonucleotides (AONs) to skip specific exons during the mRNA splicing process, helping to restore the reading frame and produce a functional, albeit truncated, dystrophin protein. This …
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