Blog Archives

STAC3 is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, the authors describe 18 patients carrying STAC3 pathogenic variants, the largest cohort of patients with STAC3-related congenital myopathy studied up to now. Importantly, the patients investigated here were not of Native … [Read more]

Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. This study describes molecular features and epidemiology of late-onset PD and investigated potential correlations between genotype … [Read more]

Treatment for myotonic dystrophy (DMA) remains an unmet medical need. Metformin is an anti-diabetic drug that has recently been shown to improve the grip test performance of the DMSXL mouse model of DM1. The drug may have positively affected muscle function via several molecular mechanisms, on RNA splicing, autophagia, insulin sensitivity or glycogen synthesis. Since … [Read more]

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]

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]

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]

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]

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]