Myology research highlights
RSS feedDMD: 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]
Is corticosteroid therapy effective on cardiac function in DMD? Review
Chinese researchers wanted to know whether the long-term corticosteroid therapy used in Duchenne muscular dystrophy (DMD) could improve cardiac function: their work is based on a critical review of studies in the field published between 2000 and 2024, 21 studies were selected, 13 of which, corresponding to 1,814 DMD patients, argued in favour of a … [Read more]
An optimised version of gene therapy being studied in SMA
Beijing researchers report the results of preclinical studies on a new-generation gene therapy for SMA: the new transgene (AAV9-coSMN1) contains an optimised codon, carried by an adeno-associated virus of the AAV9 type, mice from the Taiwanese model and non-human SMA primates were used and studied after intrathecal injection of the transgene, this modification in the … [Read more]
Clinical presentations of immune-mediated necrotizing myopathy need to be better recognised
American clinicians, including Andrew Mammen, the researcher behind the first descriptions of immune-mediated necrotizing myopathy (IMNM), take stock of this pathology and highlight its atypical forms: after recalling the usual framework of this myopathy characterised by muscle weakness and the positivity of autoantibodies against the SRP and/or HMGCR proteins, the authors have compiled the atypical … [Read more]
Long-term efficacy of nusinersen varies according to the frequency of injection
Japanese researchers have compared two protocols, Japanese and European, for administering nusinersen in the treatment of SMA: for regulatory reasons, the Japanese protocol involves only two intrathecal injections of nusinersen as a loading dose, followed by injections every 6 months instead of every 4 months in the European protocol, 14 Japanese adults with SMA took … [Read more]
Risdiplam tablets approved at European level
Already available in the oral solution form, which can be stored in the refrigerator or, exceptionally, at room temperature for up to 5 days, risdiplam (Evrysdi) has now also been authorised at European level in a new galenic form: Roche has announced that the European Commission has authorised 5 mg tablets, for patients with proximal … [Read more]
