Myology research highlights
RSS feedA comparative study of costs between nusinersen and onasemnogene abeparvovec
In association with the Novartis laboratory, which markets the onasemnogene abepavovec or OA (a gene therapy product prescribed for infantile spinal muscular atrophy linked to SMN1 or SMA), Dutch researchers have carried out a comparative study of the costs generated by innovative therapies (nusinersen versus OA): the population studied was infants born in the Netherlands … [Read more]
Spinal cord epidural stimulation proves effective in type III SMA
An initial study evaluated epidural stimulation of the spinal cord in three patients with type III spinal muscular atrophy (SMA). While motor deficits may persist with Spinraza®, Zolgensma® and Evrysdi®, this technique could directly target the dysfunction of the neuronal circuitry of the spinal cord involved in the progression of the disease. The three participants … [Read more]
A candidate biomarker for mitochondrial diseases: serum chitotriosidase 1
Elevation of serum chitotriosidase is a biomarker of lysosomal diseases, particularly in Niemann-Pick disease. Recently, the lysosomal component of mitochondrial diseases has been discussed. Serum chitotriosidase (CHIT1) was measured in 117 people with neuromuscular diseases (90 hereditary, 27 inflammatory), 34 with mitochondrial diseases, 8 with Niemann-Pick type C and 38 controls. It is significantly elevated … [Read more]
A large proportion of MNM patients in favour of telemedicine, despite some reluctance
A French study collected data from 103 adults with a slowly progressive neuromuscular disease who had been using non-invasive ventilation for at least six months, using questionnaires to gain a better understanding of their feelings and experience of telemedicine for respiratory monitoring. Concerning teleconsultation : 73.8% of patients were in favour, 26.2% opposed. 61.2% of … [Read more]
Impaired spermatogenesis in SMA
For the first time, clinicians from the Neuromuscular Diseases Reference Centres looked at the spermatogenesis of 68 men with proximal spinal muscular atrophy (SMA) before starting treatment with risdiplam, a drug likely to cause fertility problems. Of the participants, 36 had type II SMA and 32 had type III SMA, who were followed up between … [Read more]
Mexiletine is rarely prescribed in France for myotonia in children
The network of French specialists in childhood myotonia was mobilised to find out how often and in what ways mexiletine is prescribed, even though it has marketing authorisation for adult patients suffering from myotonia, whether dystrophic or not: 34 centres responded to the survey, two of which were not treating children with myotonia, 461 children … [Read more]
Real-life pharmacovigilance identifies unreported side effects of eculizumab and alglucosidase alpha
Two Chinese teams looked at the real-life side-effects of eculizumab in the treatment of myasthenia and alglucosidase alfa in the treatment of Pompe disease. Analysis of data from the FDA’s pharmacovigilance system, FAERS (FDA Adverse Event Reporting System), revealed : 46,316 side-effect reports for eculizumab between 2007 and 2023, grouped under 461 preferred terms; 4,326 … [Read more]
A therapeutic advance in myopathies related to the RYR1 gene
Swiss researchers have undertaken preclinical work to pharmacologically treat one of the forms of myopathy linked to the ryanodine receptor type 1 (RYR1) : the model used for this research was a composite heterozygous mouse for two pathogenic variants of the RYR1 gene (p.Q1970fsX16 and p.A4329D) these mice were treated for 15 weeks with 0.05 … [Read more]
Tracking and preventing possible myocardial complications: a major challenge for DMD gene therapy
As treatment with delandistrogene moxeparvovec begins to be widely prescribed in the United States for Duchenne muscular dystrophy (DMD), American experts have come together to issue recommendations aimed at better identifying and preventing the deleterious effects of this gene therapy (GT) on the heart: cases of myocarditis induced by TG remain exceptional but can be … [Read more]
