Myology research highlights
RSS feedPromising 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]
Allele-specific gene silencing by RNA interference: a robust, safe and effective treatment for dominant hereditary diseases
Allele-specific gene silencing by RNA interference is a promising therapeutic approach for dominant hereditary diseases. This strategy is based on the targeted inhibition of messenger RNA (mRNA) from the mutated allele, while preserving the expression of the healthy allele. A team at the Institute’s Centre for Research in Myology* has developed this strategy for Schuurs-Hoeijmakers … [Read more]
Psychological evaluations to improve NIV compliance in Steinert disease
An observational study evaluated factors influencing compliance with the initiation of non-invasive ventilation (NIV) treatment for sleep-disordered breathing in 13 adults with myotonic dystrophy type 1 (MD1) or Steinert disease. The six patients who did not adhere to NIV had more severe depressive symptoms, with significantly higher median Beck Depression Inventory (BDI-II) scores (18 versus … [Read more]
Gene therapy for SMA, available in the United States for patients of any age
A new indication for gene therapy in proximal spinal muscular atrophy (SMA), involving a single intrathecal injection of Itvisma, has just been approved by the FDA (Food and Drug Administration) for patients over the age of two only. This follows positive results from the STRENGTH and STEER Phase III clinical trials, which showed stabilization or … [Read more]
Few swallowing disorders in children with SMA treated at a presymptomatic phase
A consortium of clinicians from the United States, New Zealand and Brazil reports the results of a study aimed at investigating bulbar function in infants with type I proximal spinal muscular atrophy, whether symptomatic or not: 69 infants under twelve months of age were included in this retrospective study, 17 of whom had received innovative … [Read more]
A new gene linked to excitation-contraction coupling responsible for early-onset myopathy
Spanish researchers report clinical and biological data from two unrelated consanguineous families in which a new gene for early-onset myopathy has been identified: the first (comprising two affected cousins) belonged to the Bedouin community in Israel and the other was of Egyptian origin (a single affected individual), the clinical picture consisted of proximal muscle weakness … [Read more]
