Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

15 September 24 Articles ، Annemieke Aartsma-Rus DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، SpliceModulation ، ESEMotifs ، درمان_ژن
Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms
    Personal take on this article: The paper provides a comprehensive set of guidelines for designing antisense oligonucleotides (AONs) with a focus on splice modulation. AONs are tools used to interfere with gene expression by targeting specific mRNA sequences, either to degrade them, block translation, or modify splicing. This study particularly focuses on the latter, using AONs to induce exon skipping in the dystrophin gene, which has therapeutic potential …
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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

10 September 24 Articles ، Francesco Muntoni DuchenneMuscularDystrophy ، دیستروفی_عضلانی_دوشن ، Eteplirsen ، Exon51Skipping ، SafetyStudy ، Pharmacokinetics ، فارماکوکینتیک ، مطالعه_ایمنی ، پرش_اگزون_51 ، اتپلیرسن
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
      Personal take on this article: This study evaluates the safety, tolerability, and pharmacokinetics of eteplirsen in boys aged 6 to 48 months with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to restore dystrophin production. The open-label, dose-escalation trial involved 15 boys divided into two cohorts: one group aged 24 to 48 months and another aged 6 to …
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Adrenal Suppression From Vamorolone and Prednisone in Duchenne Muscular Dystrophy: Results From the Phase 2b Clinical Trial

03 September 24 Articles ، Utkarsh J. Dang ، Eric P. Hoffman ، Michela Guglieri ، Leanne Ward ، Paula R. Clemens DuchenneMuscularDystrophy ، AdrenalSuppression ، Vamorolone ، Prednisone ، CortisolThresholds ، آستانه_کورتیزول ، پردنیزون ، دیستروفی_عضلانی_دوشن ، وامورولون ، سرکوب_آدرنال
Adrenal Suppression From Vamorolone and Prednisone in Duchenne Muscular Dystrophy: Results From the Phase 2b Clinical Trial
    Personal take on this article:   This document reports on the findings from a Phase 2b clinical trial that evaluated the effects of vamorolone, a novel steroid, and prednisone on adrenal suppression in boys with Duchenne muscular dystrophy (DMD). The study involved 121 steroid-naive boys aged 4 to under 7 years with genetically confirmed DMD, and assessed adrenal function using morning cortisol levels and ACTH-stimulated cortisol levels. Adrenal …
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High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy

25 August 24 Articles ، Kanneboyina Nagaraju ، Michael W Lawlor ، David L Mack ، Allison D Ebert DuchenneMuscularDystrophy ، HMGB1 ، Biomarker ، GeneTherapy ، Microdystrophin ، Michael W Lawlor
High mobility group box 1 (HMGB1) is a potential disease biomarker in cell and mouse models of Duchenne muscular dystrophy
    Personal take on this article:   The study investigates the role of high mobility group box protein 1 (HMGB1) as a potential biomarker for Duchenne muscular dystrophy (DMD) by utilizing RNA sequencing in mouse models and human induced pluripotent stem cell (iPSC)-derived skeletal muscle cells. The findings suggest that HMGB1 is elevated in DMD conditions and can be reduced with gene therapy using microdystrophin. This indicates that HMGB1 …
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Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy

22 May 24 Articles DuchenneMuscularDystrophy ، BeckerMuscularDystrophy ، PatientCare ، DMDResearch ، MedicalResearch ، دیستروفی_عضلانی_بکر ، بیماری‌های_نادر ، GeneticDisorders ، MuscleResearch ، GlucoseTolerance ، MetabolicHealth ، BMDResearch ، ClinicalStudy ، DiabetesAwareness ، HealthScience ، ImpairedGlucoseTolerance ، Metabolism ، تحمل_گلوکز ، اختلالات_ژنتیکی ، مقاومت_انسولینی
Personal take on this article: Abstract: This study aimed to evaluate glucose tolerance in adult males with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) using an oral glucose tolerance test (OGTT) and to investigate whether body composition influences glucose response. The study included 28 adults with dystrophinopathy (13 BMD, 15 DMD) and 12 non-dystrophic controls who ingested 75g of glucose. Fingertip blood samples were taken at 30-minute intervals …
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