DystroBlog | Neuromuscular Disease Research & News

Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders

16 September 24 Articles ، Masahisa Katsuno Nucleic acid therapy for SBMA ، Antisense oligonucleotide treatment for SBMA ، RNA interference in spinal and bulbar muscular atrophy ، Gene therapy for motor neuron disorders ، Polyglutamine diseases and nucleic acid therapeutics ، Targeting androgen receptor gene mutations ، siRNA and lipid nanoparticle delivery for SBMA

This review discusses nucleic acid-based therapies for SBMA, including ASOs, siRNAs, and gene therapy, focusing on their potential to slow disease progression and improve muscle function.

Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

15 September 24 Articles ، Annemieke Aartsma-Rus N-of-1 antisense oligonucleotide therapy ، Exon skipping ASO design guidelines ، Personalized genetic therapy with ASOs ، Preclinical efficacy testing of ASOs ، Milasen and patient-specific ASO development ، Splice modulation in rare genetic diseases ، Regulatory challenges in N-of-1 therapies

This article outlines standardized guidelines for developing N-of-1 exon skipping antisense oligonucleotides, emphasizing preclinical testing, ASO design, and data sharing.

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

15 September 24 Articles ، Annemieke Aartsma-Rus Antisense oligonucleotide design strategies ، Splice modulation in exon skipping therapy ، Optimized AONs for Duchenne muscular dystrophy ، AON efficiency factors in gene therapy ، RNA secondary structure prediction for AONs ، Thermodynamics of antisense oligonucleotides ، Exonic splicing enhancers and Tra2β targeting

This study presents optimized guidelines for designing antisense oligonucleotides, analyzing their sequence composition, binding energy, and role in exon skipping therapies.

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

15 September 24 Articles ، Hanns Lochmuller ، Theodore Perkins GNE myopathy prevalence estimation ، Population genetic databases and rare diseases ، Underdiagnosed neuromuscular disorders ، Hardy-Weinberg equilibrium in genetic studies ، GNE gene mutations and muscle atrophy ، Regional prevalence differences in GNE myopathy ، Genetic screening for neuromuscular diseases

This research estimates the global prevalence of GNE myopathy using allele frequencies from population genetic databases, highlighting potential underdiagnosis and regional differences.

Open-label, Blinded, and Double-Blind

11 September 24 Useful information ، Terminology Open-label vs blinded clinical trials ، Single-blind vs double-blind study design ، Types of clinical trial methodologies ، Double-blind study as the gold standard ، Reducing bias in clinical research ، How blinding improves clinical trial accuracy ، Placebo-controlled studies in medicine

This article explains the key differences between open-label, single-blind, and double-blind clinical trial designs, highlighting their impact on research reliability and bias reduction.

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 Eteplirsen safety in young boys with DMD ، Exon 51 skipping therapy for Duchenne ، Tolerability and pharmacokinetics of eteplirsen ، DMD exon-skipping treatments ، Pediatric clinical trials in Duchenne dystrophy ، Eteplirsen early intervention studies ، Morpholino oligomer therapy for DMD

This open-label trial assesses eteplirsen’s safety in young boys with DMD, confirming its tolerability and predictable pharmacokinetics, but further efficacy studies are needed.

Mitochondrial Function in Muscle Stem Cell Fates

05 September 24 Articles ، Anthony Scimè Mitochondrial function in muscle stem cells ، Satellite cell metabolism and energy production ، Oxidative phosphorylation in muscle regeneration ، Mitochondrial dynamics in stem cell fate ، Reactive oxygen species (ROS) and muscle repair ، Aging and muscle stem cell function ، Mitochondrial interventions in muscle regeneration

This study examines mitochondrial function in muscle stem cells, detailing their role in energy metabolism, differentiation, and regeneration under aging and disease conditions.

Revised threshold & Historical threshold

03 September 24 Useful information Revised vs historical threshold in medicine ، Medical diagnostic thresholds ، Updated clinical guidelines for drug dosage ، Historical diagnostic criteria vs new standards ، Changes in medical practice thresholds ، Revised cutoff values in pharmacology ، Impact of new research on medical thresholds

This article explains the differences between revised and historical thresholds in medicine and pharmacology, highlighting their impact on diagnostics, treatment criteria, and drug dosage adjustments.

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 Adrenal suppression in Duchenne dystrophy ، Vamorolone vs prednisone in DMD treatment ، Cortisol thresholds in adrenal function ، Steroid therapy side effects in DMD ، Hydrocortisone for stress dosing in DMD ، ACTH-stimulated cortisol in muscular dystrophy ، Phase 2b clinical trial on vamorolone

This study examines adrenal suppression in Duchenne muscular dystrophy patients treated with vamorolone and prednisone, emphasizing cortisol thresholds and management strategies.

Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape

29 August 24 Articles ، Toshifumi Yokota Oligonucleotide therapies for FSHD ، DUX4-targeting treatments in muscular dystrophy ، RNA interference for FSHD therapy ، Antisense oligonucleotides in FSHD research ، CRISPR-based gene silencing in FSHD ، Epigenetic therapies for muscular dystrophy ، D4Z4 array repression in FSHD

This article reviews oligonucleotide-based therapies for facioscapulohumeral muscular dystrophy, highlighting antisense oligonucleotides, RNAi, and CRISPR-based approaches targeting DUX4.

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Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders

Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

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