Our science & medical news
RSS feedEffects of exoskeletons on mobility and motor function in MND patients
Neuromuscular diseases (NMDs) cause progressive muscle weakness that significantly impairs patients’ functional abilities and quality of life. Researchers from the Institute’s Neuromuscular Physiology and Evaluation Laboratory have published two articles assessing the Myosuit* (top photo) and Keeogo** (bottom photo), two motorised, wearable leg exoskeletons that show promise in improving the mobility and independence of people … [Read more]
Positive results from the Phase III SAPPHIRE trial with apitegromab in SMA
Apitegromab is a human monoclonal antibody that selectively inhibits myostatin activation to improve muscle function. Its efficacy was evaluated at one year in the Phase III SAPPHIRE trial, which included 188 patients with type II or III SMA who were non-ambulatory, aged 2 to 21 years, and already receiving treatment targeting the SMN protein (Spinraza … [Read more]
A rare form of myosinopathy now better understood
Researchers at the Institute of Myology* compiled clinical and genetic data from 13 patients who were found to have pathologic variants of the MYH2 gene: all presented with symptoms suggestive of slowly progressive myopathy, with variable age of onset, generally later than in cases already described in the literature; the patients were mainly from France, … [Read more]
The usefulness of the national Pompe disease registry in understanding causes of death and comorbidities
The French Pompe disease registry, which includes 200 patients, is an unrivalled source of clinical and biological data that provides a better understanding of the characteristics and progression of this disease: researchers, including clinicians from the Institute of Myology, analysed this data on a sample of 60 patients with late-onset Pompe disease (LOPD) who had … [Read more]
A comparative analysis of long-read sequencing techniques in two neuromuscular diseases
In collaboration with their Japanese colleagues, researchers from the Myology Institute* compared the diagnostic use of new sequencing technologies in the context of a growing number of genetic diseases involving nucleotide expansions: first-generation NGS (next-generation sequencing) is unable to measure these pathological expansions, particularly in patients with myotonic dystrophy type 1 (DM1) or oculopharyngeal-distal muscular … [Read more]
Pierre Klein awarded the Impulsion Award at the 2025 JSFM
Pierre Klein is a senior postdoctoral researcher at the Centre of Research in Myology in the Repeat Expansions & Myotonic Dystrophy (REDs) team led by Denis Furling. At the 22nd Conference of the French Society of Myology (FSM), held from 19 to 21 November 2025 in Aix-les-Bains, he was awarded the “Impulsion Prize”, which supports postdoctoral … [Read more]
Looking back at 2025 SFM Annual Meeting
Nearly 400 participants gathered at the 2025 French Society of Myology Conference (JSFM), which took place from 19 to 21 November 2025 in Aix-Les-Bains. Focus on muscle imaging During the conference, imaging was in the spotlight and various imaging techniques were presented, demonstrating its importance both in the upstream diagnostic process and in the monitoring … [Read more]
The lysosome, a potential therapeutic target in DMD
Researchers from the Institute of Myology and Généthon report pioneering work in the treatment of Duchenne muscular dystrophy (DMD): they started from the observation that the muscle fibres of DMD patients and their murine counterparts showed lysosomal abnormalities, which are also accompanied by overexpression of Galectin-3, a key protein in lysosomal function. By using trehalose, … [Read more]
Valentin Henriet awarded the ‘Best Technical Poster’ prize at the MYO-MRI+ 2025 conference
Valentin Henriet is a PhD student in the Nuclear Magnetic Resonance (NMR) Imaging and Spectroscopy Laboratory. The poster entitled ‘Creatine-CEST-based pH mapping in healthy volunteer leg muscles’ that he presented at the MYO-MRI+* conference was awarded the ‘Best Technical Poster’ prize. Interview. In what context did you carry out the work presented in this poster? … [Read more]
The Institute is developing an app using AI to assess motor function
Romain Feigean is a researcher at the Neuromuscular Physiology and Evaluation Laboratory headed by Jean-Yves Hogrel at the Institute’s NIC. He is particularly involved in assessing motor function, and more specifically walking, a project for which he has been awarded a grant from the Rare Diseases Foundation*. Interview How will you be working on gait … [Read more]
