Blog Archives

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]

The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced severe acute heart failure triggered by pneumonia. Levosimendan was effective in improving heart … [Read more]

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. The authors performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. They identified a 6.3 kilobase deletion that occurred in both … [Read more]

Loss of dystrophin expression in Duchenne muscular dystrophy (DMD) causes progressive degeneration of skeletal muscle, which is exacerbated by reduced self-renewing asymmetric divisions of muscle satellite cells. This, in turn, affects the production of myogenic precursors and impairs regeneration and suggests that increasing such divisions may be beneficial. Here, through a small-molecule screen, a team … [Read more]