Myology research highlights

Six gene therapy programs are under development in girdle myopathies (LGMD) at Sarepta Therapeutics, in collaboration with the Nationwide Chidren’s Hospital (Columbus, USA). They concern LGMD R1 linked to calpain, LGMD R5 linked to γ-sarcoglycan, LGMD R12 linked to anoctamine, LGMD R2 linked to dysferlin, LGMDR3 linked to α-sarcoglycan and LGMDR4 linked to β-sarcoglycan, the … [Read more]

Inflammatory myopathies (or idiopathic myositis) seem to arise, like other autoimmune diseases, on a predisposing genetic background. To assess the weight of genes, a team from the Karolinska Institutet in Stockholm used three national databases, exhaustive or nearly exhaustive, on the Swedish population, their family ties and their health care. It compared the 7,615 first-degree … [Read more]

Idiopathic inflammatory myopathy is a heterogeneous group of muscle disorders which, in short, consist of four main groups: dermatomyositis, polymyositis (or antisynthetase syndrome), inclusion body myositis (IBM) and immune-mediated necrotising myopathy. Several recent studies highlight the possible link between inflammation and the prevalence of cardiovascular risk, notably in the field of rheumatology. In an article … [Read more]

More than 300 experts from 15 countries, including clinical practitioners, geneticists, patient representatives and researchers, are taking part in the Solve-RD research project, funded by European Union grants over 2018-2022. The Myology Research Centre at the Institute of Myology (team led by Gisèle Bonne) and the ERN-Euro-NMD healthcare network are also contributing to this project. In June … [Read more]

The SMN locus, located in humans in the 5q region, is the site of relative genomic copy number instability of two paralogous genes called SMN1 and SMN2. Deletion, balanced duplication or gene conversion are relatively frequent mutational events in this chromosomal region. While homozygous deletions of the SMN1 gene are well known to give rise … [Read more]

The first French investigation center for the PREMIER trial has just opened: this is the CHU de la Timone in Marseille, which has just recruited the first European participant. Other French centers should also participate in this international phase III trial which started last March in the United States and will take place in Europe, … [Read more]

Casimersen (SRP-4045, Amondys45), an antisense oligonucleotide targeting exon 45 skipping of the DMD gene, is one of the exon skipping agents developed in Duchenne muscular dystrophy (DMD) by Sarepta Therapeutics. It obtained conditional marketing authorisation (MA) in the United States in February 2021. A phase I/II US trial studied this agent in limited ambulatory or non-ambulatory … [Read more]

A retrospective international study coordinated by a team from the Myology Centre for Research at the Institute of Myology was conducted to describe the natural history of an early-onset form of laminopathy: congenital muscular dystrophy linked to the LMNA gene. Thus, data from 151 patients with laminopathy who presented with muscle symptoms that appeared before … [Read more]

Gathered online, facio-scapulo-humeral myopathy (FSH) experts from around the world shared and updated on the latest medical-scientific advances, both in the field of research and clinical trials.   The various presentations provided an opportunity to discuss in particular: the development of a new FSH mouse model: it can express very low levels of DUX4 under … [Read more]

The creation of an open platform drawing up an inventory of all existing treatments for rare genetic diseases, including neuromuscular diseases, is one of the objectives of the European Solve-RD project, which fights diagnostic delay. This platform, better known as the “Treatabolome”, should give clinicians better visibility and knowledge of the treatments available depending on … [Read more]