Myasthenia, DMD, SMA and neuromuscular diseases: Research highlights 2026 – No. 6
In this new research highlight, discover information on urinary disorders in myasthenia, results from the EMBARK trial in DMD, pregnancy in severe forms of SMA and the benefits of virtual reality during hospitalisation.
Urinary disorders are frequent in autoimmune myasthenia
A recent study on urinary disorders in autoimmune myasthenia revealed that incontinence is more frequent in patients than in control individuals (52.3% of 86 patients versus 12.2% of 90 controls). Patients with late-onset myasthenia were more likely to experience urinary incontinence, with a more rapid progression towards this condition (median onset delay of 3.8 years) than those with early-onset myasthenia (median onset delay of 19.5 years). Patients with myasthenia more frequently experienced stress urinary incontinence (urine leakage occurring during certain movements) and overactive bladder symptoms (frequent and urgent need to urinate). In addition, the more severe the myasthenia, the more severe the urinary incontinence. Early identification of these disorders is essential to improve patient care and quality of life.
Better long-term results for Elevidys in DMD
This summer, the European Medicines Agency (EMA) issued a negative opinion regarding the marketing authorisation in Europe of Elevidys, a microdystrophin gene therapy for Duchenne muscular dystrophy (DMD), which has been available in the United States since 2023. The reason was insufficient results from the EMBARK trial, which did not show a significant difference in motor scores between treated patients and the placebo group after one year. After two years, however, the results became significant when compared with an external control group of untreated patients, notably from natural history studies. They showed stabilisation or slowing of disease progression in ambulant boys aged 4 to 8 years. Overall functional scores measured using the NSAA scale were 2.88 points higher in treated children. They also stood up slightly faster from the floor and completed the 10-metre walk slightly faster. In a press release, Sarepta Therapeutics also reported results continuing to improve after three years in treated patients.
Pregnancy is possible even in women with severe SMA
Thanks to improvements in patient management, pregnancy is now possible in spinal muscular atrophy (SMA), including severe forms, provided that regular follow-up is ensured by a multidisciplinary team including obstetricians, pulmonologists and anaesthesiologists. This is the conclusion of a study describing the follow-up of eight pregnancies in six women, including one with type I SMA (the most severe form). All patients used wheelchairs and delivered by scheduled caesarean section under general anaesthesia. Although several women experienced deterioration in respiratory function during pregnancy, almost all recovered their baseline condition after delivery. Most babies were born prematurely, but no deaths occurred and all were healthy at the end of follow-up. This study demonstrates that women with more severe forms of SMA can be successfully supported throughout pregnancy and should not be discouraged from planning to have children.
Virtual reality soothes hospitalised patients with neuromuscular diseases
In an observational study, 38 patients aged 16 years and older with neuromuscular diseases received virtual reality sessions during hospitalisation. Equipped with headsets, they participated in 30-minute sessions one to three times per week over an average period of 15 days. These sessions, based on the Tripp platform, aimed to promote well-being and relaxation through immersive environments and guided meditation. The effects of virtual reality were evaluated before and after each session using questionnaires, which showed an increase in positive emotions and a reduction in negative emotions, regardless of age, sex, education level, anxiety or depression levels. Virtual reality also appeared to induce a strong sense of relaxation. The types of available content are extremely varied and need to be adapted to patients’ needs and abilities.