Myology research highlights
RSS feedNo additional long-term beneficial effects for the bisoprolol-perindopril combination
British clinicians report the long-term results of a prophylactic treatment for cardiomyopathy in Duchenne muscular dystrophy (DMD): the combination of perindopril (a conversion enzyme inhibitor) and bisoprolol (a beta-blocker) had already been the focus of an initial randomised clinical trial by the same team in 2011 in children with DMD aged between 5 and 13 … [Read more]
Variable severity of SMA in patients with four copies of the SMN2 gene
A study published using data from the SMA France register, set up in 2020, shows a wide variety of phenotypes in patients with SMN1-related proximal spinal muscular atrophy (SMA) with homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, sometimes more severe than expected. As of May 2023, 1,112 patients were … [Read more]
Towards conditional authorisation of givinostat in Europe for walking DMD patients aged 6 and over on corticosteroids
Givinostat, a histone deacetylase (HDAC) inhibitor that acts on muscle fibrosis and inflammation in Duchenne muscular dystrophy, should be authorised in Europe very soon, under the name Duvysat™ (it has been authorised in the United States since March 2024). The application submitted to the EMA by the Italfarmaco laboratory was examined by the Committee for … [Read more]
A new non-invasive biomarker for investigating demyelinating neuropathies
An international consortium led by researchers in Nantes has developed and studied in real life a new non-invasive method for demyelinating neuropathies such as CMT1A, CIDP and anti-MAG neuropathy: shear wave elastography is a non-invasive ultrasound method based on changes in the composition and remodelling of nerve tissue in these degenerative diseases. 20 adult patients … [Read more]
A natural history study of upper limb function in SMA type II
The Spanish network responsible for monitoring patients with SMN1-related proximal spinal muscular atrophy (SMA) retrospectively studied the evolution of upper limb function in SMA type II : 149 patients with type II SMA took part in the study, which consisted of measuring the Revised Upper Limb Module (RULM) functional score at regular intervals. The participants … [Read more]
Results of a European survey on the management of bone problems in neuromuscular diseases
The partial or total immobility caused by many neuromuscular diseases, whether or not associated with the deleterious effect of corticosteroid therapy, is often the cause of bone problems (osteoporosis, osteopenia, fractures, compression, etc.): The Euro-NMD neuromuscular reference network (ERN) has conducted a double survey on these complications, which are frequently encountered over the long term, … [Read more]
A revision of the classification of congenital myopathies in the light of recent discoveries
The team at the Créteil Neuromuscular Disease Reference Centre takes stock of congenital myopathies in the light of the recent exponential increase in knowledge in this field: in addition to the histological criteria which largely contributed to their original descriptions, genetics has enabled new entities to be discovered and their contours to be better defined, … [Read more]
Immune-mediated necrotising myopathy in children, a Chinese picture
A study conducted by a hospital in Beijing (China) has refined our knowledge of the phenotype of immune-mediated necrotising myopathy in paediatrics: 55 of the 116 children and adolescents followed up for myositis by this centre between 2012 and 2024 had immune-mediated necrotising myopathy, a much higher proportion (47.4%) than expected, but one that would … [Read more]
Positive results with gene therapy in a monkey model of DMD
A Chinese team has developed a rhesus monkey model of Duchenne muscular dystrophy, enabling it to evaluate a new gene therapy, with encouraging results. The DMDEx50 animal model has mutations in exon 50 of the DMD gene. A single-vector gene therapy called MyoAAV/Cas12iMax/sgRNA3Ex51 targeting exon 51 of the DMD gene was developed using Cas12iMax technology … [Read more]
Overexpressing utrophin in DMD: a new therapeutic approach in the spotlight
Chinese researchers have revived a therapeutic technique designed to over-express utrophin, an endogenous protein very similar to dystrophin: they used a genome-editing approach in several models (cellular and animal) of Duchenne muscular dystrophy (DMD) combined with a Myo-AAV muscle-specific viral vector (to obtain MyoAAV-UA). after administration, robust and long-lasting overexpression of utrophin was obtained in … [Read more]
