Myology research highlights
RSS feedNew 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]
‘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 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]
Congenital myopathy linked to the STAC3 gene is a frequent cause of early hypotonia in South Africa
South African researchers report the clinical and biological data from a cohort of 127 young children with congenital hypotonia: they had been previously excluded for SMA and Prader-Willi syndrome, the homozygous variant identified in STAC3 by high-throughput DNA sequencing in 31 children is the same as that found in patients from Africa, additional haplotyping studies … [Read more]
A higher incidence of AINM in the New Zealand population of Polynesian origin
Clinicians report a large and growing number of cases of autoimmune necrotising myopathy (AINM) in New Zealand: 40 new cases of HMGCR autoantibody-positive AINM were diagnosed over a two-year period (2019-2021), all were in people aged over 40 who had been exposed to cholesterol-lowering statins, the calculated incidence was found to be five times higher … [Read more]
Differential circulating microRNA profiles in several subtypes of inflammatory myopathies
Italian researchers have studied extra-cellular vesicles (EVs) present in the bloodstream and containing several types of very small messenger RNA: in particular, microRNAs (miRNAs) and RNAs that interact with the piwi protein (piRNAs) were measured, the plasma of 47 patients with different types of myositis was analysed and compared with the plasma of 45 healthy … [Read more]
What is the relevant level of motor function change in DMD?
Given the relative failure of a certain number of therapeutic trials, an international consortium of specialists in Duchenne muscular dystrophy (DMD), in collaboration with the AFM-TĂ©lĂ©thon in particular, has examined the motor trajectories in this pathology: to this end, they gathered data and clinical assessments from more than 1,000 DMD patients, in the context of … [Read more]
