Myology research highlights
RSS feedGene therapy for SMA, available in the United States for patients of any age
A new indication for gene therapy in proximal spinal muscular atrophy (SMA), involving a single intrathecal injection of Itvisma, has just been approved by the FDA (Food and Drug Administration) for patients over the age of two only. This follows positive results from the STRENGTH and STEER Phase III clinical trials, which showed stabilization or … [Read more]
Few swallowing disorders in children with SMA treated at a presymptomatic phase
A consortium of clinicians from the United States, New Zealand and Brazil reports the results of a study aimed at investigating bulbar function in infants with type I proximal spinal muscular atrophy, whether symptomatic or not: 69 infants under twelve months of age were included in this retrospective study, 17 of whom had received innovative … [Read more]
A 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]
