Blog Archives
CRISPR-Cas9 : first in vivo proof-of-concept in DM1
Teams of Ana Buj Bello (Genethon), Denis Furling (Institute of Myology) and Geneviève Gourdon (Imagine Institute) have made the proof-of-concept of a CRISPR-Cas9 approach in a mouse model of Steinert’s myotonic dystrophy, the most common neuromuscular disease in adults. Indeed, thanks to this genome editing approach, the expanded CTG triplet repeat in the DMPK gene, … [Read more]
“REDs” team 4 from Research Centre in the spotlight at IDMC-12
The 12th International Myotonic Dystrophy Consortium Meeting (IDMC-12) brings together, every 2 years, leading scientists specialising in myotonic dystrophy from all over the world. This year, it was held from 10 to 14 June 2019 in Gothenburg, Sweden. Several members of the “Repeats expansion & DM” (REDs) team 4 from the Institute’s Research Centre presented … [Read more]
Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation
Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated cardiomyopathy with conduction blocks; however, variable skeletal muscle involvement can be present. Previously, researchers … [Read more]
Biomarkers in inflammatory myopathies – an expanded definition
Biomarkers as parameters of pathophysiological conditions can be of outmost relevance for inflammatory myopathies. They are particularly warranted to inform about diagnostic, prognostic, and therapeutic questions. As biomarkers become more and more relevant in daily routine, this review focusses on relevant aspects particularly addressing myopathological features. However, the level of evidence to use them in … [Read more]
Institute seminar – 24 June – Julien Ochala, PhD (UK)
NEMALINE MYOPATHY : lifting the nebula Monday 24 June 2019 – 12:00-13:00 Julien Ochala, PhD (Reader in Muscle Physiology, Fellow of the Higher Education Academy, King’s College London, UK) Host : Bertrand Fontaine Amphitheater E Faculté de Médecine de la Pitié-Salpêtrière 105 boulevard de l’Hôpital 75013 Paris metro : St Marcel
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]
