Myology research highlights
RSS feedA new gene linked to excitation-contraction coupling responsible for early-onset myopathy
Spanish researchers report clinical and biological data from two unrelated consanguineous families in which a new gene for early-onset myopathy has been identified: the first (comprising two affected cousins) belonged to the Bedouin community in Israel and the other was of Egyptian origin (a single affected individual), the clinical picture consisted of proximal muscle weakness … [Read more]
An original mode of administration in the treatment of refractory myasthenia gravis
An international consortium of clinicians reports the results of a phase III open-label trial designed to assess the benefit and tolerability of a monoclonal antibody, rozanolixizumab, administered by the patient either by manual pressure or via an infusion pump: 62 adults with generalised myasthenia gravis participated in the trial and were divided into two groups, … [Read more]
More is now known about the pathophysiology of myotubularin
The role of myotubularin, a muscle protein involved in X-linked recessive tubular myopathy, remains poorly understood. Researchers in Strasbourg and Toulouse report on their work on this protein: using Mtm1 KIC375S mice, in which endogenous myotubularin lacks enzymatic activity (phosphatase) and exhibits a phenotype combining motor deficit and early death (median survival of 12 weeks), … [Read more]
Preclinical data for a drug candidate in Steinert disease
A preclinical study evaluated SAR446268, an artificial microRNA produced by an AAV vector and targeting DMPK (dystrophin myotonic protein kinase) RNA designed by Sanofi, in Steinert’s disease or type 1 myotonic dystrophy (DM1). A single intravenous injection in mice modelling the disease resulted in a decrease in the amount of DMPK RNA in muscle and … [Read more]
Ways to avoid liver toxicity from AAV
Researchers at the Regenxbio pharmaceutical laboratory and American academics review the hepatic toxicity of adeno-associated viruses (AAV) in the context of human gene therapy, and ways to counteract it: systemically injected AAVs have a strong tropism for the liver, resulting in a high risk of complications given the very high doses used in current clinical … [Read more]
Towards better reuse of patient data in DMD
A consortium bringing together patient associations, clinicians and methodologists from several countries reports on the FAIR project, which aims to better coordinate and standardise registries of patients with Duchenne muscular dystrophy (DMD): it is based on the Findable, Accessible, Interoperable and Reusable (FAIR) use of patient data, it is part of a larger ten-step project … [Read more]
A standardised digital platform for Charcot-Marie-Tooth disease
American and Australian researchers have developed a digital platform designed to facilitate the assessment, even remotely, of patients with Charcot-Marie-Tooth disease (CMT): the platform is available on the web (www.ClinicalOutcomeMeasures.org) and focuses primarily on the assessment tools available for this common neuromuscular disorder, it now has more than 1,400 users in over 45 countries, mainly … [Read more]
A genetic predisposition to muscle toxicity from checkpoint inhibitors?
Checkpoint inhibitors used in cancer treatment are likely to cause inflammatory myopathies and/or myocarditis. German and Swiss clinicians sought to identify risk factors for the occurrence of this muscle toxicity: 20 patient records, mostly elderly (average age 67), who had presented with myositis or myocarditis between 2017 and 2024 were analysed and compared with those … [Read more]
A genetic isolate of limb-girdle muscular dystrophy in Uruguay
Clinicians and researchers in Montevideo, Uruguay, report clinical and biological data from the world’s largest cohort of autosomal dominant limb-girdle muscular dystrophy linked to the HNRNPDL gene (LGMD type D3): a pathogenic variant of HNRNPDL (Asp378His) was identified in 49 symptomatic and 10 asymptomatic patients living in the city of Nueva Palmira, in the far … [Read more]
A new familial case of distal myopathy linked to the STPAN1 gene
Belgian clinicians report clinical and biological data from a family diagnosed with distal myopathy linked to the STPAN1 gene: the clinical picture consisted of muscle weakness that appeared in childhood and progressed slowly; high-throughput sequencing studies, and in particular the search for CNVs, revealed a large deletion involving the STPAN1 gene, the DYNC2I2 gene and … [Read more]
