Myology research highlights
RSS feedTOPAZ trial of apitegromab in SMA
The TOPAZ trial tested the safety, tolerability and efficacy of the anti-myostatin apitegromab in SMA over one year in the United States and Europe (but not in France). The 58 participants, aged between 2 and 21 years, received apitegromab intravenously every 4 weeks for one year. The first cohort (open-label) included 23 participants with type … [Read more]
Charcot-Marie-Tooth disease: one in two orthotic devices prescribed is no longer used over time
An online survey of 266 Italian patients suffering from Charcot–Marie–Tooth (CMT) disease shows the low use of lower–limb orthoses: 70% of participants had received a prescription, 59% said they had experienced complications (discomfort, pain) related to the orthosis, 19% did not wear their orthoses, 31% eventually abandoned them. A French survey also showed that only … [Read more]
News of enzyme therapy in Pompe disease
Several laboratories are developing recombinant enzymes for the treatment of Pompe disease: Sanofi-Genzyme, already the originator of the first marketed treatment, Myozyme, has developed a new treatment, Nexviadyme®, while Amicus Therapeutics has developed a treatment combining a recombinant enzyme (Pombiliti®) and a chaperone molecule (Opfolda®). Using data from the international registry (more than 300 patients … [Read more]
A consensus on the management of autoimmune myasthenia in the five Nordic countries
Clinicians from the five Nordic countries (Norway, Sweden, Finland, Denmark and Iceland) have shared their experience in the management of generalised autoimmune myasthenia with autoantibodies against the acetylcholine receptor, and issued recommendations: symptomatic treatment with pyridostigmine (or equivalent) remains the basis of management, the role of corticosteroid therapy, traditional immunosuppressants and new molecules such as … [Read more]
The use of home mechanical ventilation has increased over the last two decades
In order to assess the use of home mechanical ventilation, invasive or non-invasive, between 2000 and 2023, French and Belgian authors carried out a review of the literature: 32 studies with a total of 8815 children undergoing home ventilation were included; 37% of the children had a neuromuscular disease; over the past 24 years, the … [Read more]
Language development is better in children with SMA treated at presymptomatic stage
Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited from an innovative therapy: the 12 pre-symptomatic children were diagnosed as part of newborn screening, the 36 children had their communication skills, including language, assessed once or twice over time, … [Read more]
Transcranial direct current stimulation tested in myositis
A Brazilian single-center, randomized crossover clinical trial evaluated: in 17 adults with autoimmune necrotizing myopathy or dermatomyositis in remission or minimal activity, chronic algic and asthenic ; the combined effects over 10 days of a daily 30-minute session of physical activity (treadmill walking) and real (2 mA for 20 minutes) or mimed (30 seconds only) … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the double-knockout mouse for utrophin and dystrophin (dKO) served as an experimental model, and received a transgene encoding utrophin, in addition, two distinct types of micro-dystrophin (mDysH3 and mDys5) were injected … [Read more]
Guidelines for the administration of microdystrophin gene therapy
American and European clinicians involved in innovative therapies for Duchenne muscular dystrophy (DMD) have published guidelines for the use of delandistrogene moxeparvovec, a gene therapy product: these recommendations are the result of experience acquired during the clinical development of this innovative molecule, which includes an AAV vector of the rh74 type and was developed by … [Read more]
