Myology research highlights
RSS feedMapping dystrophin expression in the central nervous system
In the context of the cognitive difficulties frequently observed in Duchenne muscular dystrophy (DMD), British researchers have reported work on the presence of dystrophin in the brain, whether adult or simply developing: transcripts of the DMD gene were analysed on samples from a bank of brain tissue at different stages of development, in particular, the … [Read more]
Towards European standardisation of registers and digital tools for myasthenia gravis
European experts met in conclave at the European Neuromuscular Center (ENMC) to define standards for the identification and management of patients with autoimmune myasthenia gravis. The ten patient registries currently in use or under development were analysed and compared, with expectations and objectives varying depending on the point of view (that of clinicians, patient associations, … [Read more]
EDG-5506 (sevasemten) stabilises functional scores in Becker’s myopathy
EDG-5506 (Edgewise Therapeutics) is a small molecule which limits the recruitment of fast muscle fibres during muscular effort, protecting the muscle from possible mechanical damage. This molecule is being evaluated in several trials, some of the results of which have been shared in recent months: A phase I trial in participants aged between 18 and … [Read more]
Positive results in mice for a new gene therapy for type I SMA
While Zolgensma® gene therapy in SMA is associated with a risk of cardiotoxicity and hepatotoxicity, another gene therapy EXG001-307 could represent a new, safer option for patients with type I SMA. Results obtained by an American and Chinese team in a mouse model of SMA show : a dose-dependent efficacy of EXG001-307, with increased survival, … [Read more]
The risk of false positivity of RACh autoantibodies persists
Italian biologists have looked retrospectively at the risk of obtaining ‘false positive’ autoantibody results when investigating patients suspected of having myasthenia gravis, the study was limited solely to autoantibodies directed against the acetylcholine receptor (anti-RACh) of the 4,795 tests carried out over the last 20 years and revisited for the purpose, 50 true ‘false-positives’ were … [Read more]
Gene therapy on hold in Danon disease
Despite encouraging results from a phase I trial of the RP-A501 gene therapy for cardiomyopathy in Danon disease, the phase II trial which had started with 12 participants has been put on hold. This follows the appearance of complications linked to capillary leak syndrome in one of the participants, resulting in his death from an … [Read more]
A new series of cases of autosomal dominant calpainopathy
French and Danish researchers have published data on patients suffering from primary calpainopathy and deviating from the usual pattern of inheritance: the 4 new cases are in addition to the exceedingly rare cases in which autosomal dominant inheritance (LGMD-D4 according to the revised nomenclature for LGMD) has been clearly established, they involved a father and … [Read more]
The use of an exoskeleton maximises the effect of nusinersen
Japanese researchers report the results of a study comparing the outcome of 12 patients with SMA who had or had not undergone motor rehabilitation using an exoskeleton, in addition to intrathecal treatment with nusinersen : the 12 patients were mainly adults with type II or III SMA, two treatment groups were set up, one with … [Read more]
DMD: Translarna® loses its conditional authorisation in Europe and is no longer available in France
On 28 March 2025, the European Commission announced the withdrawal of the European marketing authorisation for Translarna® in Duchenne muscular dystrophy. This concerned DMD patients aged 2 and over who were still walking and had a nonsense genetic anomaly in the DMD gene. In France, the decision was taken on 17 June 2025 by the … [Read more]
Givinostat is approved for marketing in Europe for certain patients with DMD
Givinostat, a histone deacetylase (HDAC) inhibitor that impacts muscle fibrosis and inflammation in Duchenne muscular dystrophy, is now conditionally approved in Europe under the name Duvysat™. It concerns: DMD patients, aged 6 and over, ambulant, on corticosteroid therapy; and requires further efficacy results to be produced on ambulant patients. In the EPIDYS trial, the group … [Read more]
