Blog Archives
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]
The REDs lab is recruiting two PhD students
ENTRY-DM: MSCA Doctoral network Interdisciplinary doctoral training on oligonucleotide-based therapies for myotonic dystrophy Two PhD positions are available from September 2025, in the laboratory Repeat Expansions and Myotonic Dystrophy, at the Myology Research Centre / Institute of Myology in Paris, France. The project is funded by a MSCA Doctoral network, coordinated by Mario Gomes-Pereira. NETWORK … [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]
Two molecules with therapeutic potential identified in LGMD R2
A collaboration involving I-Stem, Genethon and the Institute of Myology carried out a high-throughput screening of 2,239 drugs already approved for other diseases and other bioactive compounds on immortalised myoblast models of limb-girdle muscular dystrophy type R2 (LGMD R2) carrying the L1341P missense mutation in the DYSF gene or in muscle fibres from dysferlin-deficient mice: … [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]
M&M’s – Muscle Monday Seminar – 31 March – Nicolas Charlet (France)
The dark side of the human genome: Translation of microsatellite mutations located in non-coding sequences in novel and toxic proteins in neurological diseases Monday 31 March 2025 – 12h00-13h00 Nicolas Charlet (IGBMC, Strasbourg, France) Hosted by Denis Furling More information on the presentation and the speaker On prior registration for people outside the Institute of … [Read more]
Checkpoint inhibitors can induce myositis, but more rarely myasthenia gravis
A French study involving several researchers and clinicians from the Institute of Myology has retrospectively demonstrated the toxic effects of checkpoint inhibitors (ICIs), innovative products widely used in oncology: previous studies had reported cases of induced myasthenia or, more frequently, induced myositis, Using the AP-HP data warehouse, 620 records of patients treated in this way … [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]
FSHD combined with genuine myositis: an intriguing association
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral muscular dystrophy (FSHD), proven by molecular biology, and secondly, myositis authenticated by the presence of specific autoantibodies, of the 5 cases of this type identified in the myositis database of … [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]
