Myology research highlights
RSS feedBIND: 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]
SYNAPSE-CMT trial: NMD Pharma announces preliminary results
The SYNAPSE-CMT Phase IIa clinical trial evaluated NMD670 (ignaseclant) administered orally twice daily, compared to placebo, in 81 adults with Charcot-Marie-Tooth disease (CMT1 and CMT2) over 21 days in five countries, including France. Initial results from the trial were shared in a press release: the primary endpoint, corresponding to improvement in distance walked in the … [Read more]
Lamotrigine appears to be effective over two years in channelopathies
Used as an alternative to mexiletine in the treatment of non-dystrophic myotonia, lamotrigine shows lasting efficacy in a new British study: it involved 37 patients with non-dystrophic myotonia, 23 with a mutation in the CLCN1 gene and 14 in the SCN4A gene, they received lamotrigine for an average period of 26 months, the treatment resulted … [Read more]
Intrathecal gene therapy Itvisma effective in two Phase III trials in SMA
In SMN1-related proximal spinal muscular atrophy (SMA), the intravenous treatment Zolgensma is indicated for infants and young children weighing less than 21 kg with type I SMA or carrying a biallelic mutation of the SMN1 gene and a maximum of 3 copies of the SMN2 gene. According to the Phase III STEER and STRENGTH trials, … [Read more]
A new FDX2 mutation identified in a form of mitochondrial myopathy
An Italian team studied the case of a 9-year-old patient with a mitochondrial myopathy called MEOAL (Mitochondrial Episodic Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy), associated with a new homozygous mutation of FDX2 (c.200+4 A>G). The cellular abnormalities observed are probably related to a decrease in the amount of ferredoxin 2 rather than … [Read more]
