Newsletter #92 – January 2023

Check the mail online click here

	Newsletter #92 – January 2023

Dear patients and their families, Dear donors, Dear partners, All the teams and collaborators of the Institute of Myology send you their best wishes for happiness and success and wish you excellent health. May this new year, full of promise, be synonymous with progress and success and enable us to accomplish the projects we cherish. We would like to extend our heartfelt thanks to all the generous donors who supported us in 2022, despite an environment that remains challenging. Your continued support and renewed trust are essentiel for the research and care activities conducted by our Institute’s laboratories and departments. Each of your donations enables us to move forward in our research and scientific and medical advances in favour of rare diseases. We all share the same conviction: Further progress in the knowledge of muscle for a better health for all! Each day, by pushing the limits of knowledge, our researchers are exploring new ways to better understand muscle and develop new diagnostic and therapeutic solutions to combat neuromuscular disease. As we are well aware, each study, research and clinical trial requires a long-term commitment and appropriate means: The medical progress of tomorrow depends on the research of today. It is therefore vital to pursue our efforts! Together, we form a united and committed team to achieve our Ambition Myology Foundation* and give new momentum to the study of Muscle, a public health challenge.* When it comes to fighting disease, every action matters. Thank you for your unwavering understanding and everything you do for us and most importantly WITH US! To continue to support us, please click here > Ambition Fondation de Myologie THANK YOU ! Pr Bertrand Fontaine, Medical and Scientific Director of the Institute of Myology Dr Vincent Varlet, Secretary General of the Institute of Myology
At the institute
The Summer School of Myology is back in hybrid format to celebrate its 25th anniversary The 25th Summer School of Myology will take place at the Institute of Myology in Paris from June 12 to 16, 2023 in two ways: face-to-face, for 40 to 50 people, and online, on the same dates, for remote participants. Read more
Two awards for the Institute at the 2022 SFM Annual Meeting Young scientists working in the team “Cell and molecular orchestration in muscle regeneration, aging and in pathologies” led by Capucine Trollet and Vincent Mouly, at the Institute’s Myology Centre for Research have just been received the “Impulse” prize nd the “MyoImage” Prize at the French Myology Society (SFM) Annual Meeting. Read more
Crossed views on the evaluation and expected benefits of the use of exoskeletons D. Bachasson and G. Bassez present here a key research project conducted at the Institute on the evaluation of the conditions and expected gains from the use of exoskeletons in two ongoing clinical trials. F. Chrétien details the challenges of NIC, a unique platform where evaluation is at the interface of research and patient care. Read more
A review of the year 2022 with the AFM-Téléthon The year 2022 has just drawn to a close, carried by the slogan “We will not give up”, which has enabled AFM-Telethon to celebrate its greatest victories and to continue the fight for all those whose disease remains untreated. 2022 also saw new advances in research in several diseases, the organization of a major international scientific congress, and was also marked by demands for caregivers and access to innovative treatments. Read more
Our latest news
Cytoskeletal involvement in dilated cardiomyopathy caused by LMNA gene mutations Interview with Caroline Le Dour, post-doctoral fellow in the Signaling Pathways & Striated Muscles team (MCR) who just published an article in Nature Communications focusing on the interaction of actin and microtubule cytoskeletons in cardiomyopathy caused by LMNA gene mutations. 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 treatment that targets the muscle, apitegromab, used in addition to another treatment that acts on the production of NMS, nusinersen or risdiplam. Read more
Innovative non-amplification targeted long-read sequencing method enables more accurate characterization of CTG repeats in DM1 patients The REDs team at the Myology Institute developed a long-read sequencing method without amplification using CRISPR/Cas9 technology in DM1. Read more
Myasthenia gravis: the role of thymic macrophages is essential In this French study, the authors, among whom were researchers at the Institute of Myology, investigated whether AChR-MG is characterised by an IFN-I signature in the blood; they also studied the chronic thymic IFN-I signature. Read more
Anti-fibrotic drug therapies in skeletal muscle diseases Fibrosis is defined as an excessive accumulation of extracellular matrix. It can affect many organs, including muscles. It is the result of a defective regeneration process, unresolved inflammation or chronic damage. Read more
Electrophysiological studies are useful in differentiating CMS Researchers from the Institute of Myology analysed electroneuromyography data from 120 patients with congenital myasthenic syndromes (CMS) and compared them with the results of genetic studies. Read more
Miniaturised “organ-on-chip” for muscle dystrophy modelling Quantifying functional contraction of skeletal muscle is essential to assess the outcome of therapies in neuromuscular diseases. A team of scientists including researchers from the Institute of Myology has developed a miniaturised three-dimensional myotube culture chip which can monitor contraction at a single cell level. Read more
Dosing for IgG and especially IgG2 anti-TIF1γ in adult dermatomyositis would refine cancer risk assessment Anti-transcription intermediary factor 1 γ (TIF1γ) autoantibodies are associated, in adults with dermatomyositis, with an excess risk of cancer. A French study involving clinicians from the Institute of Myology had shown in 2019 that anti-TIF1γ of IgG2 subtype could be a biomarker of this tumor risk. A result confirmed by a retrospective international study conducted under the aegis of the European NeuroMuscular Center in 132 adults with dermatomyositis with anti-TIF1γ Read more
More breaking news
Fibrodysplasia ossificans progressiva (FOP): proof of concept of gene therapy in mice An American team has successfully tested the transfer of the ACVR1 gene, the transfer of an allele-specific silencing microRNA ACVR1R206H, and the combination of both. Read more
Neonatal screening for Pompe disease in Italy shows higher than expected incidence The largest European study of newborn screening for Pompe disease was conducted in north-eastern Italy over a seven-year period. Read more
Myasthenia gravis Anemia and myasthenia gravis Evolution of autoantibodies in MG: a review of the literature Evidence for earlier prescription of rituximab in adult generalized myasthenia gravis Firdapse® in autoimmune myasthenia too? Myasthenia and thymoma in children: a very rare association Depression and anxiety are common and under-diagnosed in autoimmune myasthenia gravis Intravenous immunoglobulin (IgIV) therapy does not facilitate corticosteroid dose reduction in corticosteroid-dependent Myasthenia gravis Motor plate analysis relevant to the diagnosis of seronegative myasthenia Feedback on innovative therapies for myasthenia gravis
Duchenne and Becker muscular dystrophy Dystrophinopathies: a UK consensus on the cardiological management of boys and women with DMD mutations DMB: cognitive and behavioral disorders better characterized DMD: First results from a GALGT2 phase I/II trial Different seropositivity profiles depending on the AAV Vamorolone would be less harmful to bones and growth than prednisone in DMD, while having the same functional effectiveness Contrasting results of two cell therapies targeting DMD in animals Creatine phosphokinase and creatine levels decrease with corticosteroid therapy in DMD An unusual case of early cardiac involvement of multi-factorial origin in DMD
Spinal muscular atrophy A first observation of a gender effect in SMA Exoskeleton and SMA: first feedback Magnetic resonance imaging useful for measuring the impact of motor neuron loss in SMA A new composite score for the evaluation of Kennedy disease Mexiletine ineffective in cold-related paralysis in bulbospinal amyotrophy Improvement of upper limb motor function in non-ambulant SMA type II or III on long-term nusinersen Evolution of scoliosis in SMA type II in absence of modifying treatment
Myotonic dystrophy Masseter muscle volume as a biomarker in DM1? DM2: exceptional congenital forms, maternally transmitted, associated with foot deformity Proprioceptive and vestibular damage contributes to falls in DM1 A survey of genetic counselling in neurogenetic diseases, including DM1 Molecular improvement and signs of clinical efficacy in the AOC 1001 trial in DM1
Inflammatory myopathy Apremilast, a useful additional treatment for refractory skin lesions in dermatomyositis Inflammatory myopathies: a review of mouse models Bacopa-containing food supplement involved in autoimmune necrotizing myopathy
Facioscapulohumeral muscular dystrophy Higher incidence of gastrointestinal cancer in FSHD? A new genomic sequencing technique for the diagnosis of FSH
Charcot-Marie-Tooth disease Depression and anxiety are common in CMT Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
Congenital myopathy A new muscle chaperonopathy associated with DNAJB4 A natural history of 42 individuals with dynamin-2-related centronuclear myopathy
Limb-girdle muscular dystrophy Nintedanib preserves muscle in mouse model of limb-girdle muscular dystrophy (LGMD R3) Quantitative muscle imaging enables early detection of degenerative lesions in calpainopathies
COVID-19 and neuromuscular diseases The safety data for Covid-19 vaccines are reassuring at this stage in myositis and myasthenia Telemedicine and Covid19 : a rather positive change in practices
Basic research and other disorders Barriers to heart transplantation in MELAS syndrome remain numerous Proximal myopathy due to beta-galactosidase deficiency: a case report The surgical treatment of myopathic ptosis remains complex A new muscle chaperonopathy associated with DNAJB4 A natural history of 42 individuals with dynamin-2-related centronuclear myopathy Non-invasive ventilation in children in France: focus on neuromuscular diseases Paediatric forms of FLNC cardiomyopathy are rare but important to know
In brief
AGENDA
4th International Meeting on Laminopathies - 9-12 May 2023 - Madrid, Spain Early birds registration and abstracts submission are open until 12 March. Read more
Upcoming webinars organized by EURO-NMD Upcoming webinars organized by the European network EURO-NMD: 16th February 2023, "Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation" by Stéphane Vassilopoulos, PhD (Institute of Myology, Paris) and 2nd March 2023, "Muscle hyperexcitability and cramps" by Dr. Federica Montagnese (Munchen, Germany). Read more
Rare Disease Day - 28 February 2023 Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Read more
DOCUMENTATION
Update of the "Advances in Charcot-Marie-Tooth disease" document This document, published to coincide with the AFM- Téléthon General Meeting 2022, presents news from the past year about research on Charcot-Marie-Tooth disease (international symposia, ongoing clinical trials or studies, scientific and medical publications, etc.). Read more

Newsletter subscription Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientific, medical, political and community news about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.

Also follow our news on social networks

Legal This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Fabrice Chrétien; Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Do you have any questions? Would you like to share some news? Please contact us. © 2023 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.