Myology research highlights
RSS feedA new familial case of distal myopathy linked to the STPAN1 gene
Belgian clinicians report clinical and biological data from a family diagnosed with distal myopathy linked to the STPAN1 gene: the clinical picture consisted of muscle weakness that appeared in childhood and progressed slowly; high-throughput sequencing studies, and in particular the search for CNVs, revealed a large deletion involving the STPAN1 gene, the DYNC2I2 gene and … [Read more]
Gene therapy appears to be more favourable than nusinersen in symptomatic type I SMA, according to an initial comparative analysis by the French SMA Registry.
Based on data from 309 patients listed in the SMA France Registry and suffering from type I proximal spinal muscular atrophy (SMA), French clinicians conducted an initial comparative study of nusinersen (Spinraza) and gene therapy (Zolgensma) as first-line treatments. Data on the motor, respiratory and nutritional functions of 24 children, 12 treated with gene therapy … [Read more]
A useful electrophysiological score in gene therapy for SMA
French clinicians report their experience with measuring compound muscle action potentials (CMAP) in infants with symptomatic SMA who have received gene therapy (onasemnogene abeparvovec): 19 infants with SMA, including 12 with two copies of the SMN2 gene, were included in the study, their CMAPs were measured at several nerves (median, ulnar, peroneal and tibial) at … [Read more]
The use of CAR-T cells to support gene therapy in DMD
Researchers from Généthon (Evry) used genetically modified T lymphocytes (FAP-type CAR-T) to improve gene-drug transfers via adeno-associated viruses (AAV) in gene therapy: after two injections, these CAR-T cells were found to be capable of reducing the fibrotic phenomena observed in the mouse model of Duchenne muscular dystrophy (DMD), they enable the depletion of progenitor cells … [Read more]
Changes in respiratory function in adults with SMA treated with nusinersen
German clinicians studied the respiratory parameters of 192 adult patients with SMA receiving nusinersen treatment: patients had been treated for an average of 3.2 years, several spirometry tests had been performed during this period and were correlated with each patient’s functional motor status, ventilatory parameters remained stable throughout the treatment period, with minimal deterioration, the … [Read more]
A French study on the muscular and cardiac toxicity of immune checkpoint inhibitors
French researchers have investigated the adverse effects of immune checkpoint inhibitors, which are latest-generation anti-cancer drugs: their research focused on the myotoxic and cardiotoxic effects of these molecules, data from the national health data system (SNDS) were screened and analysed for the period 2011-2022, based on 172,000 patients treated in France during this period, between … [Read more]
An original analysis of movements in support of neuromuscular diseases
American researchers have developed a technology for diagnosing and monitoring neuromuscular diseases that cause movement disorders: the device is based on video analysis coupled with an artificial intelligence system, all using a mobile phone, this approach allows for more detailed and sophisticated analysis than the simple timed tests currently available (walking or running 10 metres, … [Read more]
There are many lessons to be learned from the national registry dedicated to FSHD
The coordinators and contributors to the French National Observatory for Patients with Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) have taken an interest in unusual forms and presentations of the disease: from the 953 patient files recorded in the database, the authors identified 306 atypical cases, or 19.6% depending on the case, these could be clinical or biological … [Read more]
A wide variety of practices concerning alternative methods of repeated intrathecal injection of nusinersen in SMA
American researchers conducted a meta-analysis of implantable devices designed to facilitate the intrathecal administration of nusinersen, one of three innovative therapies commonly used for SMA: the authors searched various medical literature databases using the PRISMA methodology, eight studies involving a total of 74 patients with SMA were selected, the various devices were always used off-label … [Read more]
Phase I study suggests safety and efficacy of growth hormone and testosterone combination therapy in FSHD
In the Phase I study called STARFISH, researchers at the University of Rochester evaluated the safety and potential efficacy of a combination treatment of recombinant human growth hormone (rHGH) and testosterone in 20 adult men with facioscapulohumeral muscular dystrophy (FSHD). The 19 participants who completed the study did not experience any serious adverse effects. After … [Read more]
