Myology research highlights

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]

• 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 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]

• 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]

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]

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]

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]

Two teams evaluated the cognitive and behavioural problems of persons with Becker muscular dystrophy (BMD) in adults and in children aged 5 to 18 years. The first natural history study, published in June 2022, was conducted over four years and involved 28 adults with BMD. The average IQ score was lower than in the general … [Read more]

The largest European study of newborn screening for Pompe disease was conducted in north-eastern Italy over a seven-year period and found: an incidence of 1 in 18,795 (i.e. 39 newborns with Pompe disease out of 206,741 tested). As in other countries (Taiwan, Japan, United States, etc.), newborn screening has revealed an increasing incidence of the … [Read more]