Blog Archives
Open-label phase 2 clinical trial of ManNAc for GNE myopathy
The objective of this study was to assess long-term safety, tolerability, pharmacokinetics, and biochemical effect of ManNAc in subjects with GNE myopathy and identify clinical endpoints suitable for subsequent clinical trials. GNE myopathy is a rare, autosomal recessive myopathy caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. The … [Read more]
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy
This study aimed to investigate the efficacy and safety of aceneuramic acid extended-release (Ace-ER), a treatment intended to replace deficient sialic acid, in patients with GNE myopathy. UX001-CL301 was a phase 3, double-blind, placebo-controlled, randomized, international study evaluating the efficacy and safety of Ace-ER in patients with GNE myopathy. Participants who could walk ≥200 meters … [Read more]
SMA gene therapy: it is becoming possible to defeat the disease
At a time when the first gene therapy for spinal muscular atrophy has just received US marketing authorisation, the first French children are starting to benefit from this treatment. Next expected stage: marketing authorisation in Europe. On 24 May, the US authorities (FDA) gave their authorisation to market a gene therapy for spinal muscular atrophy … [Read more]
Inhibition of myostatin improves muscle atrophy in OPMD
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease affecting one per 80 000 of the general population characterized by profound dysphagia and ptosis, and limb weakness at later stages. Affected muscles are characterized by increased fibrosis and atrophy. Myostatin is a negative regulator of muscle mass, and inhibition of myostatin has been demonstrated to … [Read more]
Newborn screening for SMA in Southern Belgium
Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. The authors describe the stepwise process that led them to launch a newborn screening program for SMA … [Read more]
LRSAM1 variants and founder effect in French families with ataxic form of CMT2
Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. A team of clinicians aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. They collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French … [Read more]
The Myology Centre for Research opens a postdoctoral position
The team “Repeat Expansions & Myotonic Dystrophy” led by D. Furling at the “Centre de Recherche en Myologie, UMRS974” (Sorbonne Université, Inserm) located within the “Institute of Myology” in Paris (France) opens a postdoctoral research scientist position in the area of skeletal muscle biology. Research topics of the team are focused on Myotonic Dystrophy type … [Read more]
Causes and consequences of miR-150-5p dysregulation in myasthenia gravis
Autoimmune Myasthenia gravis (MG) is a chronic neuromuscular disease mainly due to antibodies against the acetylcholine receptor (AChR) at the neuromuscular junction that induce invalidating muscle weaknesses. In early-onset MG, the thymus is the effector organ and is often characterized by B-cell infiltrations leading to ectopic germinal center (GC) development. The microRNA miR-150-5p has been … [Read more]
Institute seminar – 11 June – Bernard Brais, MD PhD (Canada)
Disturbances of calcium homeostasis in the Strongman syndrome Monday 17 June 2019 – 12:00-13:00 Bernard Brais MD PhD (Neurogenetician, McGill Universtity, Montreal Neurological Institute, Canada) Host : Capucine Trollet Stomatology Amphitheatre Hôpital de la Pitié-Salpêtrière Entrance 82 bd Vincent Auriol metro Chevaleret
Release of the 73rd newsletter from the Institute
2024 Institute of Myology strategic project Welcome to our 73rd newsletter. A historic first: on May 24, the Food and Drug Administration approved Zolgensma®, a gene therapy drug for the treatment of spinal muscular atrophy. This is the first gene therapy authorized for a neuromuscular disease. In France, an agreement was reached … [Read more]
