Myology research highlights
RSS feedDifferent seropositivity profiles depending on the AAV
Gene replacement therapies for Duchenne muscular dystrophy (DMD) are based on viral vectors such as AAV (adenovirus-associated virus). An American study carried out on 101 DMD patients shows that : in this cohort, the median age was 11 years, 48% of patients were still walking at the time of the study and 59% were on … [Read more]
Inflammatory myopathies: a review of mouse models
Classical mouse models of experimental myositis were developed by immunising the animal with muscle-specific antigens, myosin or skeletal C protein. More recently, new mouse models of myositis with specific antibodies have emerged and will help to better understand the role of these myositis-specific antibodies: a model of the anti-synthetase syndrome was obtained by immunisation with … [Read more]
The value of muscle imaging in necrotising autoimmune myopathy
Italian and Spanish researchers have studied muscle imaging by magnetic resonance (MRI) in a particular form of autoimmune myopathy often triggered by statin use (AINM for autoimmune necrotising myopathy). Twenty-two patients diagnosed with AINM took part in the study. Three groups were formed according to the stage at which the MRI was performed (diagnostic or … [Read more]
Improvement of upper limb motor function in non-ambulant SMA type II or III on long-term nusinersen
Longitudinal data from 256 individuals with genetically confirmed SMA treated with nusinersen (Spinraza) were extracted from the SMArtCARE registry. Before treatment was started : • 180 had SMA type II and were able to sit up, 107 were 5 years old or younger, 73 were older than 5 years; • 37 had lost the ability … [Read more]
Nintedanib preserves muscle in mouse model of limb-girdle muscular dystrophy (LGMD R3)
• A Spanish study has tested the effects of the drug nintedanib, approved for idiopathic pulmonary fibrosis, on the muscle condition of mice model of limb-girdle muscular dystrophy related to SGCA (LGMD R3). • For 10 weeks, the researchers gave 50 mg/kg of nintedanib orally twice a day to 14 diseased mice, and compared their progress with … [Read more]
A natural history of 42 individuals with dynamin-2-related centronuclear myopathy
A retrospective study of the natural history of dynamin-2-related centronuclear myopathy has been published by the team from Harvard Medical School (Boston, USA) and Dynacure in preparation for future clinical trials. The onset of the disease was noted before the age of 2 years in 16 patients, between 2 and 17 years in 18 patients, … [Read more]
A new muscle chaperonopathy associated with DNAJB4
• An international team of doctors and researchers has discovered a new muscle form of chaperonopathy in four patients from three families, two in Spain and one in Saudi Arabia, who had not previously been genetically diagnosed. • The clinical examination of these patients indicates: a manifestation of the disease between the 1st and 4th decade; early … [Read more]
Mexiletine ineffective in cold-related paralysis in bulbospinal amyotrophy
Japanese clinicians have investigated cold-related paralysis in bulbospinal muscular atrophy (BSM). They showed that : they were frequent (88%) in an observational study of 51 patients with SBMA and 18 without the disease, mexiletine does not significantly reduce their frequency, results of the MEXPRESS crossover trial which involved 20 participants on mexiletine or placebo, taken … [Read more]
DMD: First results from a GALGT2 phase I/II trial
In an article published in December 2022, an American team published the first results of a phase I/II clinical trial to evaluate the tolerance and efficacy of AAVrh74-MCK-GALGT2, a gene therapy product injected intravascularly into each thigh, in two boys with Duchenne muscular dystrophy (DMD), aged seven and nine years. The youngest participant, aged 7, … [Read more]
The safety data for Covid-19 vaccines are reassuring at this stage in myositis and myasthenia
Two internet surveys are exploring the safety profile of Sars-CoV-2 vaccination in autoimmune neuromuscular diseases in particular: Covad has 10,900 participants worldwide, including 1,227 with myositis, and Vacnemus has 1,274 participants in France, including nearly 300 with autoimmune myasthenia. Their preliminary results show that: 76.5% of patients with myositis report having experienced at least one … [Read more]
