Our science & medical news
RSS feedThe first participant with FSH was included in the REACH phase III trial of losmapimod
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial of losmapimod will evaluate its safety and efficacy over a 48-week period. The trial is randomised, double-blind and placebo-controlled and is expected to enrol 230 adult participants with FSH1 or … [Read more]
The Institute’s clinicians and researchers in force at the ICNMD 2022 conference in Brussels
The International Congress on Neuromuscular Diseases (ICNMD) was held in Brussels from 5 to 9 July 2022. The Institute of Myology was very well represented, both in terms of clinical and fundamental research. Prof. Bertrand Fontaine, Dr. Giorgia Querin as well as Marc Bitoun and Piera Smeriglio, team leaders at the Institute’s Myology Research Centre, … [Read more]
Impact of frontal lobe damage on social dysfunction in DM1
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease that affects muscular and extra-muscular systems, including the central nervous system. Brain damage in DM1 is associated with subtle cognitive and behavioural disorders, with a major impact on socio-professional adaptation. This French study, involving clinicians from the Institute of Myology, included 28 adult patients … [Read more]
New TMP3 variant: the phenotypic range of TMP3-related congenital myopathy expands
Mutations in the tropomyosin 3 (TPM3) gene are associated with autosomal dominant and recessive nemaline 1 (NEM1) myopathy, congenital myopathy with disproportionate muscle fibre types and cap myopathy. This French-Chilean study reports the case of a 47-year-old man with polycythemia, restricted vital capacity and mild apnea/hypopnea syndrome, requiring non-invasive ventilation. Various additional examinations were … [Read more]
Muscle regeneration affects AAV vector transcription
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM) and Stéphanie Lorain (currently project leader/AFM) from the Institute’s Myology Centre for Research evaluated the impact of the necrosis-regeneration process on AAV vector expression efficiency in Duchenne muscle. This study … [Read more]
The REDs team gathered for the IDMC-13 conference
The 13th International Myotonic Dystrophy Consortium Congress (IDMC-13) took place from 22 to 25 June 2022. It should have been held both on-site in Osaka, Japan, and online, but the health situation led the organisers to opt for a digital-only version. The members of the Repeat Expansions & Myotonic Dystrophy (REDs) team therefore followed and … [Read more]
Identification of a new communication pathway in the neuromuscular junction – Interview with Laure Strochlic
A study conducted by the “Neuromuscular connectivity in health and pathologies” team led by Laure Strochlic and Bertrand Fontaine at the Institute’s Myology Centre for Research has just been published in Science Signaling*. This work demonstrates the existence of a new communication pathway in the neuromuscular junction that is active both during embryogenesis and at … [Read more]
ERN EURO-NMD webinar, June 16th: Prof. Dr. Stravos Kiliaridis, PhD (Switzerland)
Jaw malformations and teeth malpositions in Neuromuscular Disease Thursday June 16th, 2022 – 16:00-17:00 (Paris time) Prof. Dr. Stravos Kiliaridis, PhD (University of Geneva & University of Bern, Switzerland) Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.
The institute was present at the 14th MGFA International Conference on Myasthenia and Related Disorders
The 14th International Conference on Myasthenia Gravis and Related Disorders organised by the Myasthenia Gravis Foundation of America (MGFA) took place from 10 to 12 May 2022 in Miami, USA. It brought together the best experts in myasthenia, including the researchers of team 7 “Myasthenia Gravis: Etiology, Physiopathology & Therapeutical Approaches” of the Institute’s Myology … [Read more]
Researchers from the Institute’s NMR laboratory at the ISMRM 2022 conference
The 31st ISMRM (International Society for Magnetic Resonance in Medicine) congress was held in London from 7 to 12 May 2022. Researchers from the NMR Imaging and Spectroscopy Laboratory were able to present their results during several sessions, via digital posters and an oral presentation: Benjamin Marty : Assessment of skeletal muscle extracellular volume fraction … [Read more]
