Blog Archives
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]
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]
DMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein essential for muscle function, dystrophin. There is currently no effective treatment, but gene therapy trials using micro-dystrophins have been underway for several years. These strategies, targeting both skeletal and cardiac muscle, are applicable to all … [Read more]
