Blog Archives
Antisense oligonucleotides targeting the promoter region of the SMN2 gene in preclinical development in SMA
A Chinese team studied the effects of two antisense oligonucleotides targeting a key region of the methylation of the promoter of the SMN2 gene, in cell cultures derived from patients with SMA and in mice with a severe SMA phenotype. The results show that: transcription and overall expression of the SMN protein are improved following … [Read more]
Corticosteroids may improve or stabilize motor function in Fukuyama congenital muscular dystrophy
This is shown by a Japanese prospective study carried out openly in 9 children with an average age of 8.1±2.14 years. One had a moderate form of Fukuyama congenital muscular dystrophy (able to walk), another a severe form (inability to hold his head up) and the other seven could sit up unaided (classic form). Alternate … [Read more]
A new approach to gene therapy for Steinert disease – Interview with Denis Furling
The Denis Furling* team (Paris, France), in collaboration with the Nicolas Sergeant** team (Lille, France), has developed and tested a new approach to gene therapy, a so-called “decoy” approach, for Steinert disease or myotonic dystrophy type 1 (DM1). The strategy is based on the expression of modified proteins that will bind to the pathological expansions … [Read more]
Lower limb exoskeletons: 2 clinical studies starting at the Institute
The rare neuromuscular diseases are characterised, in particular, by a progressive loss of muscle strength. As a result, getting up, sitting down or going up stairs can quickly become difficult. This is why the Institute of Myology, a centre of expertise in the science and medicine of the muscle, has just launched two studies, whose … [Read more]
An ancillary study of the ginivostat trial in Becker myopathy looking for more objective criteria
The primary endpoint for evaluating ginivostat in Becker muscular dystrophy is the change in fibrosis on muscle biopsy after one year of treatment. Based on the data collected at the initial visit of this trial, an Italian and Dutch team looked for correlations between the measurement of the fat fraction of the whole thigh and … [Read more]
A promising technique to study muscle fibrosis at the cardiac level
French researchers from Nantes have developed a new technique for 3D visualization of muscle fibrosis based on automated image analysis (known as second harmonic generation or SHG) coupled with the study of histological sections of heart muscle: the dystrophin-deficient rat, model for Duchenne muscular dystrophy, and control rats were used to validate it; fibrotic lesions … [Read more]
ERN EURO-NMD webinar, Feb 17th: Pr Michelangelo Mancuso (Italy)
Primary mitochondrial myopathies Thursday February 17th, 2022 – 16:00-17:00 (Paris time) Prof Michelangelo Mancuso (University of Pisa & AOUP, Italy) “Mitochondrial Disorders Thematic Month” Webinar organised by EURO-NMD
A first positive assessment of the Japanese myotonic dystrophies registry
Steinert’s disease or myotonic dystrophy type 1 (DM1) is, in Japan as elsewhere, one of the most common neuromuscular diseases, especially in the adult population. The census of patients is carried out in Japan through the national neuromuscular registry called Remudy: the sub-registry devoted to myotonic dystrophies (DM) created complies with international standards as laid … [Read more]
A cohort of patients with DMD with exon 2 duplication
Duplications of the DMD gene encoding dystrophin are rare and represent a real therapeutic challenge. An American team compiled the clinical and biological data of 66 patients with this relatively uncommon genotype: 61% of them had a DMD-like phenotype, 30% a Becker-like phenotype and 9% an intermediate phenotype, 3/4 of them were treated with long-term … [Read more]
M&M’s – Muscle Monday Seminar – 14 February – Cecilia Jimenez-Mallebrera (Spain)
Multiple approaches to investigate congenital muscular dystrophies Monday February 14th, 2022 – 12:00 – 13:00 Cecilia Jimenez-Mallebrera, PhD (Research Coordinator Neuromuscular Unit, Hospital Sant Joan de Déu Barcelona, Spain, Department of Genetics, University of Barcelona, Spain) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation and the speaker M&M’s – … [Read more]
