Myology research highlights

  This study reports 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is required for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action … [Read more]

  X-linked myotubular myopathy (XLMTM) results from MTM1 gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to respiratory failure and death, typically within 2 years of age. This study aimed to evaluate the efficacy and safety of systemic gene therapy in the p.N155K canine model of XLMTM by performing a … [Read more]

Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. The authors identified two … [Read more]

NeoGAA, a new generation of enzymotherapy developed by Sanofi Genzyme, will be tested in 96 patients with type 2 glycogenosis (Pompe disease). Recruitment of this trial is underway. This international trial will be conducted in more than 20 different countries. In France, Reference Centres for “Neuromuscular Diseases” in Nice, Paris, Lille, Lyon, Marseilles, Bordeaux and … [Read more]

OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy (SMA) using a cohort of genetically proven SMA patients from USA. METHODS: This was a cross-sectional questionnaire-based study. The authors mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women … [Read more]

Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. The authors report a CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-based strategy to correct the most frequent (exon 2) duplication in the DMD gene by targeted deletion, and tested the efficacy of such an approach in patient-derived myogenic … [Read more]

Immune mediated necrotising myopathies (IMNM) may be associated with anti-SRP or anti-HMGCR antibodies and the titre of these antibodies is correlated with the disease activity. In this study, the investigators have examined the hypothesis that anti-SRP and anti-HMGCR antibodies may be involved in muscle damage. Muscle biopsies of patients were analysed for atrophy and regeneration, … [Read more]

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. Here, the authors hypothesised a potential correlation between the size of the (GCN)n expansion and the severity … [Read more]

The SUNFISH trial, an international phase II study of the splice-modifying drug RO7034067 in people with type 2 or 3 spinal muscular atrophy (SMA), begins in France at I-Motion. The first French investigative centre of the SUNFISH trial has just opened: I-Motion is a paediatric clinical trial platform for neuromuscular diseases at the Institute of … [Read more]

This retrospective study evaluated the efficiency and tolerance of rituximab in the management of resistant myasthenia gravis (MG). Twenty-eight patients who received rituximab for the treatment of MG between 2004 and 2015 at Pitié-Salpétrière University Hospital (Paris, France) were included. The efficacy of rituximab was evaluated every 6 months by the myasthenic muscle score (MMS), … [Read more]