Our science & medical news
RSS feedInnovative non-amplification targeted long-read sequencing method enables more accurate characterization of CTG repeats in DM1 patients
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder associated with symptom variability. It is caused by an unstable expansion of CTG repeats that increases over generations and in tissues, up to 4000 CTGs. Clinical variability depends on the number of CTG repeats, CNG interruptions and somatic mosaicism. Until now, the limitations of … [Read more]
SAPPHIRE trial starts at I-Motion
The SAPPHIRE trial is an international, randomised, double-blind, placebo-controlled phase III trial that will evaluate the effects of a dual treatment : apitegromab (an anti-myostatin developed by Scholar Rock) injected intravenously every 4 weeks for one year, in addition to treatment with nusinersen or risdiplam, in non-walking patients with SMA type II or III, 156 … [Read more]
Dystrophin restoration after AAV U7-mediated Dmd exon skipping is modulated by muscle exercise in a mouse model of severe DMD
A team of French researchers, involving researchers from the Institute, showed in a mouse model of severe DMD that voluntary exercise has an impact on a Dmd exon skipping approach and on muscle physiology. D2-mdx mice were administered an AAV-U7 snRNA intra-muscularly to correct the Dmd reading frame and then allowed to run in a … [Read more]
Developing allele-specific versatile siRNAs that can silence all dominant mutations in dynamin 2
Dominant mutations in the DNM2 gene encoding Dynamin 2 (DNM2) cause centronuclear dominant myopathy (CNM), rare cases of Charcot-Marie-Tooth disease and hereditary spastic paraplegia. Deleterious overexpression of DNM2 has also been found in several other diseases. In February 2018*, researchers from the Institute of Myology led by Marc Bitoun** had published the proof of concept … [Read more]
A new mutation mechanism in SMA
A few very rare cases of SMA are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation in a 50 year old patient with type III SMA. It took 30 years to solve this complex case. The novel mutation corresponded to the insertion of a retrotransposon of … [Read more]
The value of myostatin measurement in the follow-up of inflammatory myopathies
Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in Paris have investigated the hypothesis that the determination of myostatin, a muscle growth inhibitory factor, may be useful in this context: ELISA assays for myostatin and complementary measurement of the … [Read more]
The work of two researchers from the Institute awarded at the WMS
Two researchers from the institute were awarded prizes for their work at the WMS 2022 conference held in Halifax, Canada, and online from 11 to 15 October 2022. They received the Elsevier Subscription Prize: Harmen Reyngoult, co-team leader of NMR Laboratory – Spectroscopy Laboratory in the Neuromuscular Investigation Center, was awarded the prize for his Selected Flash poster: … [Read more]
Characterisation of PABPN1 aggregates in OPMD – Interview with Capucine Trollet
The results of an international study conducted by the Institute’s Capucine Trollet and Vincent Mouly team have just been published in Acta Neuropathologica. The article relates to the characterisation of PABPN1 aggregates performed on a unique series of 90 muscle biopsies from OPMD patients, collected from clinicians in France, Canada, the Netherlands and Israel, and on … [Read more]
Experts from the Institute at WMS 2022
The 27th World Muscle Society International Congress (WMS) will be held from October 11 to 15, 2022 in Halifax, Canada, as well as in a virtual version on the congress platform. International muscle experts will gather to discuss basic research, clinical trials and therapeutic advances in neuromuscular diseases. Researchers and clinicians from the Institute will be present, both … [Read more]
ERN EURO-NMD webinar, Oct. 13th : Robert Pangalila (The Netherlands)
Quality of life in Neuromuscular Disease Thursday October 13th, 2022 – 16:00-17:00 (Paris time) Robert Pangalila (Rijndam Rehabilitation Clinic and Erasmus University Medical Centre, The Netherlands) Please register here to attend the webinar Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.
