Myology research highlights
RSS feedSYNAPSE-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]
French study identifies prognostic markers for interstitial lung disease associated with anti-synthase syndrome
Conducted in seven reference or competence centres in north-eastern France, the TYPASS retrospective study included 132 adults with antisynthetase syndrome and interstitial lung disease: 39% of them had rapidly progressive lung disease, the three factors identified as being associated with this rapid progression were the presence of fever, organised pneumonia or pleural effusion, in addition, … [Read more]
Feedback on inflammatory myositis in the African population of Martinique
Clinicians in Martinique report on their experience in the field of inflammatory myopathies occurring in the Caribbean population of African origin: the records of 174 patients diagnosed in this overseas community between 2000 and 2023 were reviewed, among them, 55 corresponded to anti-synthetase syndrome, 44 to overlap myositis, 44 to dermatomyositis, 16 with polymyositis, 14 … [Read more]
Evrysdi, reimbursed for presymptomatic SMA
According to the publication in the Official Journal of 13 January 2026, the conditions for reimbursement of Evrysdi (Risdiplam) in oral solution form have been extended to include presymptomatic children. They now apply to a wider range of patients: patients with a clinical diagnosis of SMA type I, II and III, presymptomatic patients with 1 … [Read more]
Is rituximab useful in ocular myasthenia gravis?
Chinese clinicians report encouraging results regarding the use of rituximab, an anti-CD20 monoclonal antibody, in forms of ocular myasthenia gravis: their pilot study involved 9 adult patients treated between 2023 and 2024 with a low dose of rituximab (200 mg), all of whom were seropositive for acetylcholine receptor (AChR) antibodies, the treatment led to a … [Read more]
An unprecedented paediatric case of myopathy linked to the HMGCR gene
HMGCR is an enzyme involved in the metabolism of cholesterol and other metabolites. Until now, it was best known in connection with autoimmune necrotising myopathy (AINM) with anti-HMGCR autoantibodies, following statin use: American and Japanese clinicians report an unprecedented case of hereditary myopathy linked to the gene encoding this enzyme but occurring at a very … [Read more]
A comprehensive study of a series of patients with SLONM
Italian clinicians analysed the clinical and biological data from a large series of cases of sporadic late-onset nemaline myopathy (SLONM): they added their own cases (5) to those in the literature, giving a total of 144 patients, 47% of whom had been initially diagnosed with SLONM with monoclonal gammopathy, which was absent in the other … [Read more]
