Myology research highlights
RSS feedA new ‘European’ form of oculopharyngodistal myopathy linked to the ABCD3 gene
A study has identified 8 unrelated families, including 35 members suffering from a new form of oculopharyngodistal myopathy (OPMD) linked to the ABCD3 gene. This is the 5th form identified, involving people of European descent. The other 4 known forms (linked to the LRP12, GIPC1, NOTC2NLC and RILPL1 genes) affect people of Asian descent; The … [Read more]
Spinal cord organoids developed for SMA
In recent years, the development of organoids, small 3D structures that resemble the whole organ, has enabled us to understand how they develop and function. German researchers have developed spinal cord organoids in SMA, using patient-derived IPS cell lines. These spinal cord organoids show defects in early neurological development that could be responsible for the … [Read more]
Can efgartigimod also be used for myasthenic attacks?
Three publications published during the summer of 2024 report the use of efgartigimod (Vyvgart®), a neonatal anti-Fc receptor (FcRn), to treat acute decompensations of autoimmune myasthenia: these case reports from Japan and China concern a total of 14 patients aged between 26 and 76, with anti-RACh (13 cases) or anti-MuSK; efgartigimod contributed to the rapid … [Read more]
Analysis of a large French cohort of patients with mitochondrial diseases
The French network of diagnostic laboratories for mitochondrial diseases (MitoDiag) has published the results of a clinical and genetic study (panel, WGS and/or WES on the nuclear genome) of around 2,000 patients suspected of having a primary mitochondrial disease (PMD). The authors observed: pathogenic variants in 397 patients (newborn to 81 years), 74% of whom … [Read more]
The 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]
