Blog Archives

Mexiletine is a sodium channel blocker indicated in France for the symptomatic treatment of myotonic syndromes (myotonic dystrophies and non-dystrophic myotonias or channelopathies). The Summary of Product Characteristics, however, recalls that mexiletine has anti-arrhythmic properties and “may cause the occurrence of an arrhythmia or worsen a pre-existing arrhythmia diagnosed or not” requiring the establishment of … [Read more]

Spinal muscular atrophy (SMA) is currently classified into 5 different subtypes, from most severe (type 0) to the mildest (type 4) depending on the age of onset of the disease, the best motor function achieved and the number of copies of the SMN2 gene. Two recently approved treatments for SMA patients have revolutionized patients’ quality … [Read more]

The arrival of immune checkpoints inhibitors (ICI) in oncology has been a real revolution for treating cancers that until then had reached a therapeutic impasse. Aside from their effectiveness in boosting the anti-tumor action of the immune system, ICIs also promote the onset of autoimmune pathologies, for example inflammatory myopathies (myositis). A large-scale analysis A … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children and adults. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. Most of the adult patients are aging patients from type II or III SMA, they rarely are type … [Read more]

The COMET clinical trial compared the efficacy and safety of neoGAA, a new generation enzyme therapy, with Myozyme, a standard treatment in Pompe disease, both developed by Sanofi-Genzyme. This double-blind, phase 3 trial involved 100 patients with late-onset disease in 56 different centers in 20 countries around the world. Preliminary analysis of the data after … [Read more]

Becker’s muscular dystrophy (or BMD for Becker muscular dystrophy) is an allelic variant of Duchenne muscular dystrophy (DMD). It is due to an incomplete and genetically determined deficiency of dystrophin, a key protein in the architecture of muscle fibers. Much less common than DMD (10% of all dystrophin deficits), it is due to mutations in … [Read more]

Duchenne muscular dystrophy (DMD) is the most common myopathy in young boys. Due to a complete and genetically determined dystrophin deficiency, it causes progressive proximal muscle weakness and, in the longer term, cardio-respiratory complications responsible for premature death. Loss of walking occurs on average around the age of twelve, with the adolescent becoming dependent on … [Read more]

Planned for the beginning of 2021, the goal of the phase IV RESPOND clinical trial, being conducted by Biogen, is to provide answers to a topical question: does taking Spinraza® (nusinersen) improve the effects of Zolgensma® (onasemnogene abeparvovec) in infants or children with SMA for whom the latter has not been sufficiently efficacious? To achieve … [Read more]

Spinal muscular atrophy is one of the most common neuromuscular diseases in children. Due to degeneration of the second motor neuron, it leads to paralysis and premature death in the most severe cases. Among the many sub-categories of SMA depending on the age of the first symptoms and the maximum motor levels reached by the … [Read more]