Myology research highlights

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. The authors report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, … [Read more]

Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures. An international team of experts including clinicians from I-Motion and researchers from the Institute of … [Read more]

Adult tissue repair and regeneration require stem-progenitor cells that can self-renew and generate differentiated progeny. Skeletal muscle regenerative capacity relies on muscle satellite cells (MuSCs) and their interplay with different cell types within the niche. However, the understanding of skeletal muscle tissue cellular composition is limited. Here, using a combined approach of single-cell RNA sequencing … [Read more]

Edasalonexent is an orally administered small molecule designed to inhibit NF-κB, which is activated from infancy in Duchenne muscular dystrophy and is central to causing muscle damage and preventing muscle regeneration. This study ains to evaluate the safety, tolerability, pharmacokinetics and exploratory pharmacodynamics of three doses of edasalonexent in ambulatory males ≥4 to <8 years … [Read more]

Hepatocyte-restricted, AAV-mediated gene transfer is being used to provide sustained, tolerogenic transgene expression in gene therapy. However, given the episomal status of the AAV genome, this approach cannot be applied to pediatric disorders when hepatocyte proliferation may result in significant loss of therapeutic efficacy over time. In addition, many multi-systemic diseases require widespread expression of … [Read more]

Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular condition manifested by progressive skeletal muscle weakness, cardiopulmonary involvement and cognitive deficits. Neurodevelopmental symptoms and signs are under-appreciated in this population despite the recognition that cognition has a major impact on quality-of-life. The authors describe the neurodevelopmental needs in a large cohort of young boys … [Read more]

From March 25 to 28, AFM-Téléthon is organizing Myology 2019, a congress dedicated to muscles, and gathering 800 experts from 35 countries around the world. Twenty years after the first congress of Myology in 2000, it is clear that knowledge about neuromuscular diseases has taken a significant leap forward. Medical care has evolved considerably, improving … [Read more]

Los Angeles, March, 16, 2019 – AFM-Téléthon received the « Pioneer in Technology Development » award for its role in the development of innovative therapies for neuromuscular and rare diseases at the Annual World Congress of Society for Brain Mapping and Therapeutics (SBMT-Brain and Spine). Considered as the equivalent of the Oscar for Neuroscience, the … [Read more]

A European team reports for the first time a certain tendency towards dry eye and thinning of the cornea in two inflammatory myopathies. To evaluate corneal parameters in patients with polymyositis (PM) and dermatomyositis (DM) and compare them with those of healthy controls, the authors enrolled a total of 43 PM and 32 DM patients … [Read more]

The European gene therapy trial STR1VE EU is an open-label, phase III study to evaluate the efficacy and safety of utilisation of a single, intravenous injection of AVXS-101 (an AAV9 carrying the SMN1 gene), in 30 infants with SMA associated proximal spinal muscular atrophy (SMA) type 1, under 6 months of age. The study was … [Read more]