Blog Archives
World Duchenne Awareness Day on 7 September
World Duchenne Muscular Dystrophy Day provides an opportunity to note the acceleration in the development of innovative therapies for this neuromuscular disease, which is the most common in children. In particular, gene therapy represents a very promising avenue. Généthon, the AFM-Téléthon laboratory, is currently developing a drug candidate which has demonstrated its efficacy in the … [Read more]
New hypotheses on the pathophysiology of inclusion myositis
The pathophysiology of inclusion body myositis (IBM) remains poorly understood. Against this background, American researchers have put forward some new hypotheses: their study looked at muscle biopsies from 38 patients with IBM and 22 healthy individuals matched for age and gender, several complementary approaches were used (transcript study, immunological profile, immunocytochemistry and Western blot, etc.), … [Read more]
Real-life study confirms the place of eculizumab in myasthenia gravis
The retrospective multicentre ELEVATE study in the United States involved 14 myologists and neurologists who prescribed eculizumab to 119 of their patients suffering from Myasthenia Gravis, with anti-RACh in 97% of cases. This drug, prescribed most often for inadequate symptom control (82%) or poor tolerance of treatment (40%), resulted in: a significant reduction in the … [Read more]
Does thymectomy have harmful long-term consequences?
A retrospective study recently published in the New England Journal of Medicine has raised the question of an increased long-term risk, in terms of cancer, autoimmune disease and mortality, after thymectomy as part of cardiothoracic surgery. In Neurology, international specialists in myasthenia (including a researcher from the Institute of Myology) and cardiothoracic surgery review what … [Read more]
‘Universal’ CAR-T cells in autoimmune necrotising myopathy (and scleroderma)
In February 2024, an initial Chinese team published the case of a patient suffering from a refractory form of autoimmune necrotising myopathy, who went into remission following an infusion of CAR-T cells directed against B lymphocyte maturation antigen (BCMA). Six months later, a second publication, this time from a clinical trial, reported another success in … [Read more]
DMD: a gene therapy strategy more effective than microdystrophin in mdx mice
Within a month of each other, a German-American and a Chinese-American team published the proof of concept of a gene therapy strategy leading to the expression of a full-length dystrophin in the skeletal and cardiac muscle of mdx mice. This method is based on intelin-mediated protein trans-splicing. It uses triple administration via a highly muscle-tropic … [Read more]
A case of myositis following gene therapy for DMD
American clinicians involved in gene therapy designed to deliver a truncated version of the dystrophin gene (microdystrophin) by vein, using an adeno-associated virus, have reported a complication that was already known but rarely encountered: the patient was 9 years old and still able to walk at the time of gene therapy (GT), his genotype corresponded … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Heart transplants and muscular dystrophies: reticence shattered
A review of the literature on the 275 heart transplants performed for muscular dystrophies up to July 2023 shows that : these operations involved 116 patients with Becker’s myopathy (BMD) and 102 with laminopathy, but also 17 patients with limb-girdle muscular dystrophy (LGMD), 12 with Steinert’s myotonic dystrophy (DM1), 11 with Duchenne muscular dystrophy (DMD), … [Read more]
Our 2023 Annual Report is online
In 2023, the Institute continued its dynamic transformation and the deployment of its strategy to support research and innovation. It was also a key year for the emergence of muscle as a public health issue. We all share the same ambition: to support patients throughout their care pathway and to develop strong synergies to bridge … [Read more]