Myology research highlights
RSS feedThe importance of in-depth genetic analysis in cases of congenital myopathies linked to the RYR1 gene
On the basis of two paediatric cases of myopathies linked to the RYR1 gene and a review of the literature, a Japanese team has highlighted the complexity of genetic counselling in these diseases, linked to their possible dual mode of inheritance, via an autosomal dominant or recessive mode. It is difficult to distinguish between these … [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]
Myo-Guide: an online tool combining AI and MRI to help diagnose NMDs
An international consortium has developed a web application based on artificial intelligence (machine learning) for the automated diagnosis of neuromuscular diseases using muscle MRI. It can be accessed by anyone on the Myo-Guide platform. To develop it, 34 centres in Europe, America and Asia shared 2,961 muscle MRI scans of patients with 20 different pathologies. Its … [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]
New developments in the treatment of certain refractory inflammatory myositis
German clinicians report a case of antisynthetase syndrome (ASyS) treated with several biotherapies: the patient, aged 45, had ASyS with signs of joint, muscle (myositis) and respiratory (interstitial lung disease) disease, with the presence of autoantibodies directed against the Jo-1 antigen, an initial treatment with CAR-T cells directed against CD19 lymphocytes resulted in remission for … [Read more]
Towards a better understanding of the side effects associated with the use of CAR-T cells
German clinicians have studied adverse side effects in patients with autoimmune diseases who have received CAR-T cells targeting the CD19 antigen: 39 adult patients, including six with inflammatory myopathy of autoimmune origin, were selected for this retrospective study. 30 of them developed a cutaneous and/or renal intolerance syndrome within 10 days of CAR-T cell injection. … [Read more]
Tolerance of efgartimod in myasthenia gravis
Chinese researchers have studied the adverse reactions observed when efgartigimod, a new-generation immunosuppressant used, among other indications, in refractory autoimmune myasthenia, is administered: their work is based on pharmacovigilance data contained in the American database managed by the FDA (Food and Drug Administration), which is freely accessible and reports all types of adverse events linked … [Read more]
