Myology research highlights
RSS feedGenotype-phenotype correlations in Pompe disease
A review of the literature revealed 115 cases of infantile (42) or late-onset (73) Pompe disease. Genetic analysis of associated GAA variants showed that : the presence of at least one splice variant was found in 96.6% of cases in late-onset forms ; in 71.4% of cases in infantile forms, there was no splice variant; … [Read more]
A meta-analysis of the efficacy and safety of vamorolone in DMD
German clinicians have compiled data from the literature in order to assess the efficacy and safety of vamorolone, a new-generation synthetic corticosteroid recently authorised in Europe and the United States to treat Duchenne muscular dystrophy (DMD): data from 210 DMD patients treated with vamorolone at a dose of 2 mg/kg/day or 6 mg/kg/day were collected … [Read more]
A new natural history of muscle-expressing laminopathies
Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of the LMNA gene: 26 patients took part in this study, which lasted two years. the usual follow-up parameters were used as the basis for the analysis (NSAA score, timed tests, … [Read more]
Myotubular myopathy: are cardiac compensatory mechanisms at work?
The team at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasbourg has explored the non-neuromuscular effects of myotubular myopathy in the Mtm1-/y mouse model: no functional or morphological abnormalities were found in the liver; alongside the disturbances in muscle development, inflammation, cell adhesion and oxidative phosphorylation found in skeletal muscle, … [Read more]
Correlation between mutated protein domain and clinical phenotype in CMT X1
A French retrospective analysis studied genotype/phenotype correlations in 275 adults with Charcot-Marie-Tooth X1 (CMT X1) disease managed in the 13 largest neuromuscular disease reference centres. Patients were classified into three categories according to the protein domain affected by the mutation in the GJB1 gene encoding connexin 32: transmembrane domain (25 variants for 72 patients), extracellular … [Read more]
A new case of myopathy secondary to digenismus
Russian researchers have published a study of a sibling with a diagnosis of myopathy linked jointly to the SPRK3 and TTN genes: two brothers aged 6 and 10 presented with a congenital myopathy that was very early onset but not very progressive. Their whole exome genotyping revealed a pathogenic variant in the gene encoding titin … [Read more]
Promising phase IIb results with sonlicromanol in mitochondrial myopathies caused by the m.3243A>G mutation
Positive results have been published from a phase IIb clinical trial evaluating the drug candidate sonlicromanol in mitochondrial diseases caused by the m.3243A>G mutation. The trial was conducted in two stages: A first, randomised, controlled part in which 27 patients were divided into three groups, depending on whether they received 50 mg, 100 mg sonlicromanol … [Read more]
Three clinical trials underway in France for Steinert disease
Clinical research into Steinert disease (or myotonic dystrophy type 1 – DM1) is currently benefiting from a new positive impetus, in which France is playing a full part: Promising new results from the phase I/II ACHIEVE trial evaluating DYNE-101 have been announced in a press release. They confirm the trends presented in previous press releases, … [Read more]
Cochrane meta-analysis in preparation on therapies for RYR1-related myopathies
An international consortium of clinicians led by a South African neuropaediatrician has presented a protocol designed to analyse the impact of different therapeutic interventions in muscle-expressing diseases associated with abnormalities of the RYR1 gene: the study will be based on the Cochrane methodology for meta-analysis of the literature on the subject, 7 experts have been … [Read more]
A majority of patients with refractory myasthenia gravis experience durable remission after autologous haematopoietic stem cell transplantation
Following an initial report of three cases in 2022, a Canadian team has published the results of a retrospective study of 21 patients with severe and refractory Myasthenia Gravis with anti-MusK or anti-RACh, treated by autologous haematopoietic stem cell transplantation 1.9 to 21.8 years after diagnosis. Out of 18 evaluable patients : 16 achieved and … [Read more]
