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Multiexon skipping by antisense PMOs in a dystrophic dog and exon 7-deleted DMD patient

Antisense oligonucleotide induced exon skipping has emerged as a promising therapeutic strategy for Duchenne muscular dystrophy (DMD). Systemic administration of antisense phosphorodiamidate morpholino oligomers (PMOs) targeting exons 6 and 8 in dystrophin mRNA of the canine X-linked muscular dystrophy model in Japan (CXMDJ) that lacks exon 7, restored dystrophin expression throughout skeletal muscle and ameliorated … [Read more]

Co-administration of AAV Vectors with SVP-Rapamycin enables vector re-administration in pre-clinical gene therapy

Généthon, founded by the AFM-Téléthon, and Selecta Biosciences, a clinical-stage biopharmaceutical company, today announced that Nature Communications has published their jointly authored paper entitled “Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration”. A world first ! The pre-clinical study led by Genethon demonstrated that co-administration of synthetic vaccine particles encapsulating … [Read more]

Nusinersen is effective in SMA 1 patients older than 7 months

This study, which is part of the Expanded Access Program (EAP; NCT02865109), evaluated the safety and clinical efficacy of nusinersen in 33 children (aged between 8.3 to 113.1 months) with spinal muscular atrophy type 1 (SMA1). Patients were evaluated before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. … [Read more]

Role of the neuromuscular junction as a therapeutic target in SMA

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by progressive degeneration of lower motor neurons in the spinal cord, resulting in skeletal muscle atrophy and muscle weakness. Increasing evidence suggests that impaired neuromuscular junction (NMJ) can also be present in SMA. The authors of the present study recently reported the association between … [Read more]

Respiratory evaluation in CMDs and CMs and its relation to clinical trial

Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) constitute the two most important groups of congenital onset muscle diseases. They represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of … [Read more]

Potential pathogenic role of anti-SRP and anti-HMGCR antibodies in IMNM

Idiopathic inflammatory myopathies (IIM) are a group of acquired autoimmune disorders that mainly affect the skeletal muscle tissue. Classification criteria of IIM are comprised of polymyositis, dermatomyositis, inclusion body myositis and immune-mediated necrotizing myopathies. One important hallmark of autoimmune diseases is the detection of autoantibodies in patient sera. The anti-SRP (signal recognition particle) and anti-HMGCR … [Read more]

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

This case report describes an 18-year-old man with a history of intellectual disability, dysmorphic features diabetes mellitus type 1, and thyroiditis related to an 18p deletion (18p-) syndrome. He developed progressive left leg muscle weakness/atrophy that suggested an inflammatory myopathy. The patient carried an 18p deletion, two potentially permissive 4qA alleles, and marked D4Z4 (sized … [Read more]

High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy

Myotonic dystrophy (MD), the most common inherited myopathy, is associated with high cardiovascular mortality. A preliminary analysis of the DM1 Heart Registry, a comprehensive database that captures information relative to the cardiac management of adults presenting to our center with MD, revealed a high prevalence of venous thromboembolism (VTE). Clinicians from the Institute of Myology … [Read more]

Urinary titin: a non-invasive biomarker for DMD?

Early detection of Duchenne muscular dystrophy (DMD)  by mass screening may enable the early treatment of these patients. Here, the authors report that urinary titin concentration, an indicator of severe muscle wasting, is a diagnostic biomarker for DMD. Urinary titin concentrations were measured in healthy 3-year-old children and, by comparison with concentrations in 4 DMD … [Read more]

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification

This workshop on the classification and nomenclature of the LGMDs aimed to i) reach consensus on an updated definition of LGMD and to evaluate current subtypes of LGMD by application of the updated definition; ii) review and evaluate suggestions of potential new classifications of LGMD subtypes; iii) reach consensus on the most useful nomenclature and … [Read more]