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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]

Innovative 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]

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]

M&M’s – Muscle Monday Seminar – 17 November – Pascale Bomont (France)

Intermediate filaments: from mechanisms in giant axonal neuropathy to therapeutic perspectives for IF-pathies– November 17th, 2022 – 12:00 – 13:00 Pascale Bomont, PhD (ERC group leader, INSERM Research Director NeuroMyoGene Institute, Lyon, France)   On prior registration for people outside the Institute of Myology: : medecine-umrs974-myologie@sorbonne-universite.fr More information on the presentation and the speaker   Muscle Monday … [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.

One word to describe the congress “Myology 2022”

Intriguing, friendly, fast-paced, cross-disciplinary… it’s not easy to sum up the 7th edition of the Myology Congress organized by the AFM-Telethon in a single word. Discover the answers of the researchers who took up the challenge! Myology 2022 is over! During 4 days, researchers, clinicians and experts in myology were able to exchange on the … [Read more]

ERN EURO-NMD webinar, Sept. 22nd : Prof. Costanza Lamperti (Italy)

Mitochondrial Genetics Thursday September 22nd, 2022 – 16:00-17:00 (Paris time) Prof. Costanza Lamperti (lstituto Neurologico C.Besta, Milan, Italy)   Please register here to attend the webinar   Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.