Myology research highlights
RSS feedPreclinical 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]
Gene therapy appears to be more favourable than nusinersen in symptomatic type I SMA, according to an initial comparative analysis by the French SMA Registry.
Based on data from 309 patients listed in the SMA France Registry and suffering from type I proximal spinal muscular atrophy (SMA), French clinicians conducted an initial comparative study of nusinersen (Spinraza) and gene therapy (Zolgensma) as first-line treatments. Data on the motor, respiratory and nutritional functions of 24 children, 12 treated with gene therapy … [Read more]
A useful electrophysiological score in gene therapy for SMA
French clinicians report their experience with measuring compound muscle action potentials (CMAP) in infants with symptomatic SMA who have received gene therapy (onasemnogene abeparvovec): 19 infants with SMA, including 12 with two copies of the SMN2 gene, were included in the study, their CMAPs were measured at several nerves (median, ulnar, peroneal and tibial) at … [Read more]
The use of CAR-T cells to support gene therapy in DMD
Researchers from Généthon (Evry) used genetically modified T lymphocytes (FAP-type CAR-T) to improve gene-drug transfers via adeno-associated viruses (AAV) in gene therapy: after two injections, these CAR-T cells were found to be capable of reducing the fibrotic phenomena observed in the mouse model of Duchenne muscular dystrophy (DMD), they enable the depletion of progenitor cells … [Read more]
