Myology research highlights
RSS feedA new protocol for treatment with high-dose nusinersen arrives in Europe
While nusinersen is currently administered at a dose of 12 mg intrathecally, a new treatment device with higher doses (50 mg and 28 mg) has just been authorised by the European Commission. This follows the results of the DEVOTE trial, which showed a significant improvement in motor function in participants with proximal spinal muscular atrophy … [Read more]
The French model for multidisciplinary team meetings in SMA
With the arrival of three innovative treatments (Spinraza, Zolgensma and Evrysdi), multidisciplinary team meetings (MTM) were set up in France in 2017 and then rolled out nationwide in 2019 to define the best treatment strategy for children who have just been diagnosed with SMA or who do not yet have treatment. The main features of … [Read more]
DMD: dystrophin deficiency also affects vascular cells
While vascular damage is suspected in Duchenne muscular dystrophy (DMD), recent studies show that dystrophin deficiency alters the plasticity of vascular smooth muscle cells. These results were obtained from mdx mice and vascular smooth muscle cells derived from induced pluripotent stem cells from patients with the disease. Dystrophin is highly expressed in normal smooth muscle … [Read more]
A French study sheds light on the progression of CMT 4C
Conducted over 20 years (2003–2023), this study involved 103 patients with Charcot-Marie-Tooth disease linked to the SH3TC2 gene (CMT 4C) who were monitored in 27 French university hospitals. The patients mainly presented with muscle weakness and loss of sensation in the distal limbs, foot deformities, scoliosis sometimes accompanied by breathing difficulties, hearing loss, etc. After … [Read more]
GC101 gene therapy shows encouraging results in type II and III SMA in nine patients
While Zolgensma gene therapy is only indicated for children weighing less than 21 kg with type I SMN1-related proximal spinal muscular atrophy (SMA) or who carry a biallelic mutation of the SMN1 gene and a maximum of three copies of the SMN2 gene, a Chinese team has tested a new gene therapy, GC101. Like Zolgensma, … [Read more]
Promising results from a CAR-T cell trial in refractory myasthenia gravis
Following the publication of initial success in 2024, a Chinese team has published the results of a multicentre phase I trial that evaluated three different doses of autologous anti-BCMA and anti-CD19 CAR-T cells preceded by lymphodepletion in 18 adults with refractory autoimmune myasthenia gravis: myasthenia had previously been resistant to IV immunoglobulins (67% of participants), … [Read more]
A thymectomy before the generalisation of myasthenia would be preferable in certain patients
While there is still no consensus on the treatment of ocular myasthenia gravis, an Italian team conducted a retrospective study of 174 patients initially diagnosed with an ocular form of myasthenia gravis: 112 underwent thymectomy at the ocular stage of myasthenia gravis, 62 at the generalised stage; 29.3% had thymoma; the stable complete remission rate … [Read more]
CMT: a promising European conference
Charcot-Marie-Tooth disease (CMT) was the focus of the second edition of a European congress held in Antwerp on 23, 24 and 25 October 2025, bringing together nearly 140 researchers, doctors, patients and representatives of the pharmaceutical industry: The recently founded European Charcot-Marie-Tooth Research Association (ECRA) elected its first official board, comprising scientists, doctors and patient … [Read more]
International recommendations for FOP
The 21 members of the International Clinical Council on FOP (ICCFOP) and seven consultants from 15 countries, including France, have published: a summary of current best clinical practice recommendations for Fibrodysplasia Ossificans Progressiva, focusing on early diagnosis, prevention of injuries and iatrogenic causes of flare-ups, management of flare-ups and functional optimisation, these guidelines are detailed … [Read more]
Limited interest in measuring CMAP in adults with SMA
German clinicians report the results of a multicentre observational study evaluating adults with SMA receiving nusinersen treatment: 78 patients, including 51 non-ambulatory patients, participated in the study, the measurement of motor action potential (CMAP) in two nerves of the upper limbs (ulnar and median) was chosen as the primary endpoint, measurements were taken every 4 … [Read more]
