Myology research highlights
RSS feedIncreasing efficacy of Elevidys in DMD
L’essai de phase III EMBARK avait présenté des résultats non significatifs contre placebo pour le critère principal à un an, ce qui avait valu un avis défavorable de l’Agence européenne du médicament (EMA) à la commercialisation de l’Elevidys dans la dystrophie musculaire de Duchenne (DMD). The phase III EMBARK trial showed non-significant results compared to placebo for the primary endpoint … [Read more]
A pregnancy documented in SMA type I
A retrospective study describes eight pregnancies in six women with severe SMA, who were all wheelchair-dependent, including one case of type I SMA. The three women who were receiving noninvasive ventilation (NIV) at home prior to their pregnancies experienced a deterioration in their respiratory function. They required increased respiratory support but were able to return … [Read more]
Neurodevelopmental disorders in children with treated SMA type I: a point of attention
Around twenty international experts on SMA gathered at a workshop organised by the European Neuromuscular Centre (ENMC) to review the neurodevelopmental disorders observed in a number of children with SMA type I who are receiving or have received innovative therapy: these disorders affect cognition, social interactions, communication and behaviour; their frequency appears to be significant … [Read more]
Pharmaceutical companies call for greater flexibility in assessing the toxicity of AAV-mediated gene therapy
The question of the duration of clinical and biological monitoring after gene therapy remains under debate, particularly beyond 18 months: a survey was conducted among thirteen laboratories involved in clinical gene therapy protocols using adeno-associated viruses (AAV), out of 24 programmes listed, the vast majority of adverse effects were noted and documented in the first … [Read more]
BIND: a tool for better identifying and assessing central nervous system involvement in DMD
An international consortium of researchers has developed and validated a new tool for studying disorders related to central nervous system damage (learning disorders, etc.) in patients with Duchenne muscular dystrophy (DMD): BIND (Brain Involvement iN Dystrophinopathies) takes the form of an 18-item scale completed by the patient themselves and/or their carers. developed by a group … [Read more]
Limited efficacy of using AAV-U7 to deliver antisense oligonucleotides to the brains of DMD mouse models
Researchers at the University of Versailles-Saint-Quentin tested antisense oligonucleotides (ASOs) targeting exon 51 skipping of the DMD gene in mdx52 mice, models of Duchenne muscular dystrophy (DMD) with exon 52 deletion, thereby disrupting dystrophin (Dp427) expression in the brain: previous work by the same researchers had shown that these ASOs were truly effective in targeting … [Read more]
German-speaking real-world data on the use of innovative therapies in SMA
Researchers consulted the SMArtCARE registry, which focuses on SMA in Germany, Austria and Switzerland, in the context of innovative therapies available since 2017: data from 2,140 SMA patients listed in the registry were analysed, 60% of them received treatment with nusinersen, 24% with risdiplam and 11% with gene therapy (onasemnogene aboparvovec), two-thirds of treated patients … [Read more]
Genotyping of a large cohort of neuromuscular patients in Iran
Iranian clinicians and biologists report the results of genotyping 2,009 individuals with various neuromuscular diseases (including spastic paraplegia and hereditary ataxia): patients were recruited from across the country and genetic studies were centralised in Tehran over an 11-year period, the techniques used included, as appropriate, neuromuscular gene panels, whole exomes and MLPA (to detect PMP22 … [Read more]
A case of Lambert-Eaton syndrome successfully treated with efgartigimod
Chinese clinicians report the case of a 73-year-old patient diagnosed with Lambert-Eaton myasthenic syndrome (LEMS) who underwent treatment with a latest-generation immunosuppressant: the patient met all the criteria necessary to confirm the diagnosis of LEMS, including the onset of motor disorders in the context of small cell lung cancer, a compatible electrophysiological study and positive … [Read more]
Givinosat (Duvysat®) receives unfavourable opinion on reimbursement from the HAS in DMD
Givinostat (Duvyzat®) has had conditional European marketing authorisation since June 2025 for boys aged 6 years and older with Duchenne muscular dystrophy (DMD) who are ambulatory and also treated with corticosteroids. On 12 February 2026, the French National Authority for Health (HAS) issued an unfavourable opinion on its reimbursement by the national health insurance system … [Read more]
