Myology research highlights
RSS feedEarly-onset SMA: a German real-life study of children treated with nusinersen
Analysis of data collected by the German-speaking SMArtCARE observatory of 143 patients under 18 years of age with early-onset SMA who had not acquired sitting before starting nusinersen (Spinraza®) showed that: 88 children started nusinersen before the age of 2 years with a follow-up of 23.3 ± 12.9 months (cohort 1a), and 55 after the … [Read more]
FKRP Limb-girdle muscular dystrophy : 1st patient treated in the European gene therapy clinical trial
The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9). This is a major step, the result of 30 years of excellence in research led by Isabelle Richard, head of the Progressive Muscular … [Read more]
Moxifloxacin, an antibiotic of interest in SMA
An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. Administered daily subcutaneously to mouse models of SMN1-related proximal spinal muscular atrophy (SMA), this quinolone antibiotic : increases SMN protein production in the spinal cord and skeletal muscle, improves the function of neuromuscular … [Read more]
A review of the literature compares prednisone and deflazacort in DMD and favours the latter in the short term, while in the long term their effects are similar
Corticosteroids prescribed from the age of 4 to 5 years in Duchenne muscular dystrophy enable the loss of walking to be delayed by at least 2 years and protect the respiratory function in particular. But between prednisone/prednisolone and deflazacort, the question remains: which one to prescribe? A review of the literature analysed publications involving hundreds … [Read more]
What alternative to face-to-face rehabilitation in DMD?
In a study published in May 2022, a Turkish team carried out a measurement of muscle strength and a functional evaluation of motor performance in 19 patients with Duchenne muscular dystrophy, randomly divided into a group performing exercises in tele-rehabilitation and a control group limited to doing the same exercises following videos. The exercises proposed … [Read more]
McArdle: clinical trial proves benefits of exercise
A clinical trial of 17 people with McArdle’s disease demonstrated the potential benefits of a 2-year training program targeting endurance and strength. Six of the 10 patients who completed the program became asymptomatic, while the others experienced an improvement in their symptoms. In the control group without exercise, the disease remained stable at best. Another … [Read more]
Diaphragm involvement in Pompe disease more clearly visualized on imaging
The diaphragmatic muscle is a key muscle in Pompe disease, which causes its dysfunction due to a toxic accumulation of glycogen. Dutch researchers studied this respiratory muscle in 30 patients with Pompe disease, treated or not, at a one-year interval, by imaging (3D MRI), the data obtained being compared to those of a control group. … [Read more]
Rituximab is proving to be an effective background treatment for MG, including in children
Rituximab is an injectable monoclonal antibody that depletes B lymphocytes (CD20+); it is increasingly used in autoimmune diseases, including myasthenia. A Spanish study confirmed its clinical efficacy in 30 adult patients. The authors emphasize the risk of hypogammaglobulinemia after treatment. Another multicenter study conducted in the United Kingdom, Switzerland, Australia, and Germany focused on pediatric … [Read more]
A novel method to treat recurrent pneumothorax in Ullrich myopathy
American authors report the case of a 19-year-old patient suffering from Ullrich myopathy (collagen VI deficiency) since childhood and who presented a recurrent pneumothorax in a context of long-term non-invasive ventilation. This complication of barotraumatic origin seems quite frequent in this type of myopathy. A conventional treatment with a flexible catheter having proved unsuccessful in … [Read more]
One in five adults with dermatomyositis discontinues immunomodulators at a median of three years
In the United States, an expert center studied a cohort of 243 adults with dermatomyositis followed between 2013 and 2020 and treated with at least one systemic immunomodulator (corticosteroids, immunoglobulins, methotrexate, tofacitinib…). Their follow-up shows that: 19% were able to stop all immune-modulating therapy within a median of 37 months; this cessation was 2.7 times … [Read more]
