Duchenne muscular dystrophy

The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had decided twice against renewing the marketing authorisation for Translarna (ataluren) for Duchenne muscular dystrophy (DMD). In May 2024, the European Commission annulled the procedure on the grounds of procedural irregularities. It asked the EMA to re-analyse the available evidence, … [Read more]

Californian researchers have developed an original, easy-to-use method for measuring gait parameters in young patients with Duchenne muscular dystrophy (DMD): a gyroscope contained in a commercial smartphone and a specific application were used to measure the person’s movements in the three planes of space, 15 young DMD patients (aged 3 to 16) and 15 healthy … [Read more]

The SNOW-P programme, which stands for Supporting Nutrition and Optimising Wellbeing Programme, was co-constructed with carers of young boys with Duchenne muscular dystrophy. Fifty-three of them responded to a survey: 48% thought their son was overweight, which led to complexes (71%) and a negative impact on his self-esteem (64%) and mobility (57%); although healthy eating … [Read more]

Canadian researchers have written a book chapter summing up the knowledge acquired in the field of muscle stem cells (also known as satellite cells): these cells, located at the periphery of the muscle fibre, are the basis of muscle regeneration, they have been studied here in the two very different contexts of Duchenne muscular dystrophy … [Read more]

The COVID-19 pandemic provided an opportunity to rethink the methods used to assess functional scores in neuromuscular patients, particularly those with Duchenne muscular dystrophy (DMD): American researchers studied the validity of remote administration of the NSAA (North Star Ambulatory Assessment) scale in the form of a streaming video under the supervision of a physiotherapist, the … [Read more]

Supplementation with long-chain omega-3 polyunsaturated fatty acids (ω-3 LCPUFA) was tested in a double-blind, placebo-controlled study for six months in 31 boys with Duchenne muscular dystrophy (DMD): eighteen were treated with ω-3 LCPUFA and 13 with placebo; leukocyte mRNA levels of the muscle regeneration marker FOXP3 in ambulant participants were higher than in non-ambulant participants; … [Read more]

Catalan clinicians have studied the possibility of early detection of myocardial alterations in Duchenne muscular dystrophy (DMD): 23 adolescents with dystrophinopathy (14 DMD, 8 Becker, 1 symptomatic transmitter) were assessed using cardiac magnetic resonance imaging (cardio-MRI) and cardiac functional parameters, their data were compared with a control group of 173 healthy individuals, the analysis was … [Read more]

Given the rapid and recent development of microdystrophin gene therapy treatments for Duchenne muscular dystrophy (DMD), there is little data on the side effects of these treatments. The Delphi method was used to develop a consensus on the assessment and management of side effects (vomiting, gastritis, acute liver damage, myocarditis, autoimmune myositis) of delandistrogene moxeparvovecavant … [Read more]

Brazilian physiotherapists have studied variations in physiological parameters in patients with Duchenne muscular dystrophy (DMD) in a seated position, in an aqueous environment or in an aerial environment: 16 DMD patients took part in an experiment in two different environments, measuring energy expenditure (in particular, oxygen consumption) and other vital parameters (functional capacity, heart rate), … [Read more]

American and South Korean researchers have studied the myocardial dysfunction observed in Duchenne muscular dystrophy. Their work involved a transgenic mouse with a combined but partial dystrophin and utrophin (mdx/utrn (+/-)) deficiency: an inhibitory microRNA was delivered to the animal via an AAV (adeno-associated virus) type 9 (AAV9) to counter the effects of miRNA25, an … [Read more]