Myology research highlights
RSS feedMexiletine 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]
An alternative method for injecting nusinersen intrathecally
Spanish clinicians report their experience with an unconventional injection route in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) with nusinersen : six patients with SMA, including five with type II and one with type III, benefited from this treatment due to the impossibility of using the lumbar route, Five were over 18 years … [Read more]
International recommendations for the child-adult transition in DMD
A group of international experts has drawn up international recommendations concerning the transition of patients with Duchenne muscular dystrophy (DMD) from paediatric to adult age: in real life, this pivotal period is often synonymous with loss of follow-up, which can be detrimental to the functional future of the DMD patient, Even though feedback varies from … [Read more]
Positive phase I/II results for brogidirsen in Duchenne muscular dystrophy
Brogidirsen is a dual-targeting phosphorodiamidate morpholino oligomer (PMO) antisense oligonucleotide composed of two sequences targeting exon 44 of the DMD gene in Duchenne muscular dystrophy. A Japanese phase I/II clinical trial involving six patients aged between 4 and 13 years demonstrated its ability to partially restore dystrophin expression. Of the six patients, five had a … [Read more]
Impaired social cognition in DMD
An Italian team carried out a neuropsychological evaluation of 20 patients with Duchenne muscular dystrophy (aged between 7 and 17), and in particular their social cognitive abilities. The patients performed less well on items concerning theory of mind and affect recognition, both in the presence and absence of another cognitive deficit. Only two previous studies … [Read more]
A case report of 20 congenital titinopathies due to an exon variant of the single metatranscript
The TTN gene, which comprises 363 exons, is subject to numerous alternative splicing events. The exons excluded or partially included in the main isoforms of skeletal muscle (N2A isoform) or cardiac muscle (N2B isoform) are defined as ‘metatranscript-only exons’ (MTT-only exons) and are thought to be expressed only during foetal muscle development. A retrospective study … [Read more]
Hearing difficulties found in CMT 1 disease
While clinical studies suggest that patients with Charcot-Marie-Tooth (CMT) disease may suffer from ‘hidden’ deafness, a recent Dutch study used self-questionnaires to assess the hearing difficulties of these patients and their repercussions in everyday situations. The study included 42 patients with CMT1, 30 with CMT2 and 72 matched controls. Patients with CMT1 were found to … [Read more]
