Myology research highlights
RSS feedTwo new treatment approaches for progressive ossifying fibrodysplasia
An ultra-rare disease, fibrodysplasia ossificans progressiva (FOP) results from gain-of-function mutations in the ACVR1 or ALK2 gene, which lead to the formation of heterotopic ossifications. Preclinical results (particularly in mouse models) published in June 2025 show that these ossifications are prevented by oral administration of: RK783, a molecule identified during the screening of 140,000 molecules … [Read more]
Genetic factors may influence the risk of developing myasthenia gravis, as well as its expression
A retrospective study of the records of 281 patients with autoimmune myasthenia gravis followed by an Israeli specialist centre between 2000 and 2022 reveals that: 5.7% of them have a first- or second-degree relative with the same disease, a figure almost identical to that of a previous study (5.6%) conducted in the United States. Compared … [Read more]
Unfavorable opinion on marketing authorisation and suspension of clinical trials in Europe for Elevidys in DMD
Over the summer, the European Medicines Agency (EMA) issued an unfavourable opinion on the conditional marketing authorisation of Elevidys, a microdystrophin gene therapy for ambulatory patients aged 3 to 7 years with Duchenne muscular dystrophy (DMD). This opinion, which must be ratified by the European Commission, is based on insufficient data on the treatment’s efficacy … [Read more]
The benefits of physical activity are confirmed in neuromuscular patients
In the Netherlands, researchers enrolled 44 inactive adults with various neuromuscular diseases (muscular dystrophy,congenital myopathy, etc.) in a six–month home training programme combining aerobic exercise on an ergometer andeight coaching sessions in person or by telephone. Compared to the control group, analyses at the end of the intervention showed unchanged CPK levels and a significantly … [Read more]
Launch of the MitoGether website, a reference for genetic mitochondrial diseases
To celebrate the World Mitochondrial Disease Week (September 15th to 21st), the MitoGether consortium, comprising 12 patient associations and their families including AFM-TĂ©lĂ©thon, is launching a reference website. It aims to be the leading resource on mitochondrial genetic diseases, providing expert information on research, diagnosis, medical care and treatment for these diseases, which are associated … [Read more]
Tadalafil and sildenafil have beneficial effects in patients with primary mitochondrial diseases
Following the identification of a patient with Kearns-Sayre syndrome who reported significant clinical improvements while taking tadalafil, a Hungarian-American research team studied the efficacy of this molecule and sildenafil, either of which was administered to six patients with primary mitochondrial diseases (MELAS, Kearns-Sayre syndrome, etc.) off-label. Analysis of patient fibroblasts incubated with tadalafil or sildenafil … [Read more]
An inflammatory factor in Charcot-Marie-Tooth disease
Two French publications suggest that an inflammatory mechanism may be involved in certain forms of Charcot-Marie-Tooth disease (CMT), which are generally considered to be exclusively genetically determined. Four patients with CMT 1A followed up at two reference centres developed Guillain-BarrĂ© syndrome, which progressed favourably overall. The high frequency of this association (4 cases in 5 … [Read more]
Only part of the D4Z4 region is necessary for epigenetic repression of DUX4
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the abnormal and delayed expression of a transcription factor called DUX4, which has a deleterious effect on adult muscle fibers. American and Dutch researchers have precisely characterized the D4Z4 region where the DUX4 gene is located: several fragments of the region of interest (D4Z4) were then studied in … [Read more]
Towards a better understanding and management of SORD-related neuropathy
Biallelic mutations in the SORD (sorbitol dehydrogenase) gene cause neuropathy that can present as a purely motor form (distal hereditary motor neuropathy, dHMN) or as axonal Charcot-Marie-Tooth disease with muscle and sensory involvement (CMT 2). An international publication analysed data from 144 patients with SORD-related neuropathy (two-thirds with CMT 2 and one-third with dHMN). It … [Read more]
Large deletions of the NEB gene in distal myopathy
An international consortium of researchers, including two French scientists, studied possible correlations between genotype and phenotype in the context of myopathies linked to the NEB gene encoding nebulin: the triplicated part of the gene (exons 82 to 105) was studied in particular, 35 families were genotyped using different methods (NGS – whole exomes and genomes, … [Read more]
