Myology research highlights
RSS feedThe results of the evaluation of omigapil in congenital muscular dystrophies have been published
CALLISTO was a phase I trial designed to assess the safety, tolerability and pharmacokinetics of omigapil for 12 weeks in 20 children with congenital muscular dystrophy (CMD) linked to COL6 or LAMA2. The results of the study published this year showed good safety and a favourable pharmacokinetic profile of the product in these children. However, … [Read more]
Review of gene therapy approaches in CMT
An increasing number of gene therapy products are being developed for Charcot-Marie-Tooth disease. This article provides an overview of the main approaches under study: a single phase I/II trial is underway in the United States in CMT 2S, involving 10 patients, twelve products are in preclinical development, for which the choice of vector and route … [Read more]
Cardiovascular damage in McArdle’s disease
A review of the literature on cardiovascular damage in McArdle disease, or type V glycogenosis, shows that : 21 cases have been described, including 18 men, most often with coronary artery disease (17 cases), or, more rarely, hypertrophic cardiomyopathy. The authors of this review therefore recommend regular cardiac monitoring in McArdle’s disease. Cardiac comorbidities … [Read more]
Losmapimod fails in facioscapulohumeral myopathy
The initial results of the REACH Phase III placebo-controlled trial evaluating losmapimod in 260 adults with FSHD1 or FSHD2 over one year have just been announced by the Fulcrum Therapeutics laboratory in charge of its development, and they’re not good. Losmapimod failed to meet the trial’s main endpoint, namely to improve measurement of the relative … [Read more]
Congenital myasthenic syndrome linked to CHRNE: forms of variable severity
A phenotypic study of a series of 91 Bulgarian Roma patients with congenital myasthenic syndrome linked to the homozygous c.1327delG mutation of the CHRNE gene, aged between one and 64 years, revealed three groups of differing severity: 44 patients, with an average age of 23.7 years, had a mild form; twenty-six others, with an average … [Read more]
Description of a fifth family of type 4 distal oculopharyngeal myopathy
Distal oculopharyngeal myopathy (DOPM) type 4 is due to a CGG repeat expansion in the RILP1 gene. First described in 2022, it has only been reported in four Chinese families. It manifests as ptosis in the third decade, ophthalmoplegia between the ages of 25 and 35, and dysphagia and dysarthria between the ages of 30 … [Read more]
The SH3 domain interactome of amphiphysin 2 in centronuclear myopathies
While amphiphysin 2 uses its BAR domain to anchor to cell membranes and cause them to bend, it also has an SH3 domain at the other end that enables it to interact with other proteins, in particular dynamin 2, cavin 4 or another amphiphysin 2 molecule. Using a new approach to studying the interactome, the … [Read more]
What about the use of statins in hereditary myopathies?
An Israeli expert in neuromuscular diseases has examined the still controversial issue of statins in routine myological practice. Based on the literature, the author draws the following conclusions: this class of cholesterol-lowering drugs is known for its potential direct or indirect muscle toxicity, in the form of autoimmune necrotising myopathy (ANIM) or, less dramatically, simple … [Read more]
The links between muscular dystrophy and TRAPPC11 are becoming clearer
The TRAPPC11 gene encodes a component of a protein complex involved in intracellular trafficking between the Golgi apparatus and the endoplasmic reticulum. Czech researchers have tried to find out more from samples of new patients with a complex genotype: three patients presenting with early-onset muscular dystrophy had a particular genotype combining distinct missense variants of … [Read more]
The MYOCAPTURE project improves molecular understanding of congenital myopathies
Between 2009 and 2018, whole exome sequencing of 310 families affected by congenital myopathy as part of the MYOCAPTURE project, supported by the AFM-TĂ©lĂ©thon, identified 14 new genes: four linked to other neuromuscular diseases or cardiomyopathy (ASCC1, HSPB8, CACNA1S, MYPN), ten never implicated in a genetic neuromuscular disease (ACTN2, CASQ1, GGPS1, MAP3K20/ZAK, ORAI1, MYO18B, PYROXD1, … [Read more]
