Myology research highlights
RSS feedCHMP opinion still negative on the renewal of Translarna’s marketing authorisation in DMD
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]
A probable Finnish founder effect in a form of congenital myasthenic syndrome
Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the DOK7 gene: all were homozygous carriers of a mutation in the DOK7 gene (c.1508dupC), this was accompanied by considerable variability in phenotypic expression, the authors distinguished between two groups, one … [Read more]
Respiratory function in SMA patients treated with gene therapy
A growing number of infants diagnosed with spinal muscular atrophy (type I or type II) are benefiting from adeno-associated virus (AAV)-mediated gene therapy. Clinicians at the Necker-Enfants Malades hospital report on their respiratory progress: 15 infants (including one case of SMA type II) with a median age of 8.6 months (3.8 to 12.6 months) were … [Read more]
A meta-analysis of the efficacy and safety of the onasemnogen abeparvovec in SMA
Brazilian researchers have compiled data from the literature on one of three innovative drugs designed to treat children with type 1 spinal muscular atrophy (SMA1). The onasemnogene abeparvovec (Zolgensma®) is the first gene therapy product to have marketing authorisation for this indication: the authors selected four publications corresponding to three clinical trials (START, STR1VE-US and … [Read more]
European recommendations for the treatment of epilepsy in mitochondrial diseases
A group of 24 experts (two of whom practice in France), members of five European reference networks, used the Delphi method to draw up recommendations for the treatment of epilepsy in primary mitochondrial diseases: consensus was rapidly reached on the safe use of 14 of the 25 antiepileptic drugs studied for children and adults; for … [Read more]
Improved pneumococcal vaccination coverage in inflammatory diseases in the United States
Faced with very low vaccination coverage rates, particularly against pneumococcus, in patients with inflammatory pathologies, American clinicians set up an action plan: the target population was patients with lupus or connective tissue diseases (including inflammatory myopathies such as dermatomyositis), whether or not they were being treated with immunosuppressive drugs, two types of vaccine (PCV13 and … [Read more]
Cardiac myosin inhibitor improves skeletal muscle contractility in Laing myopathy
Mavacamten is a small molecule inhibitor of myosin ATPase activity, used in hypertrophic cardiomyopathies, which targets myocardial hypercontractility by reducing the number of myosin heads in a disordered relaxed configuration in favor of a predominantly super-relaxed state as in normal muscle. Mouse models carrying the MYH7 mutation most common in distal Laing myopathy display muscle … [Read more]
Nusinersen does not prevent hip instability in SMA type II
Researchers in Hong Kong investigated the extent to which treatment with intrathecal nusinersen influenced the risk of bilateral hip dislocation, a complication very frequently observed in spinal muscular atrophy type II (SMA II) linked to the SMN1 gene : 10 children with SMA type II were included in the study, which ran for three and … [Read more]
Gait in DMD now easier to analyze in real life
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]
An indirect comparison of two innovative compounds in the treatment of myasthenia gravis
Efgartigimod (Vyvgart®) and ravulizumab (Ultomiris®) are two new-generation monoclonal antibodies, anti-FcRN and anti-C5 respectively, designed to treat refractory forms of generalised autoimmune myasthenia with positive autoantibodies against the acetylcholine receptor. German clinicians have attempted to compare their efficacy and safety indirectly: the results of the two main studies of one (ADAPT trial) and the other … [Read more]
