Newsletter #89

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	Newsletter #89

Dear patients and their families, Dear donors, Dear partners, We wish you a very happy New Year and, especially, very good health. We hope the New Year gives you the energy needed to help you accomplish projects that are close to your heart. We extend our warm thanks to the generous donors who supported us in 2021, despite the fact that conditions were still difficult. This support is key to the research and care activities pursued by our Institute’s laboratories and medical departments. Each one of your donations allows us to further progress our projects and our scientific and medical advances for the benefit of rare diseases. We all share the same conviction: the progression of our knowledge of the muscle to provide better health to everyone! Each day, by pushing back the boundaries of our knowledge, by encouraging innovative therapies to emerge, the projects pursued by our experts give us the means to fight neuromuscular disease more effectively. Also, as we know very well, each study, research and clinical trial avenue requires a long-term commitment and tomorrow’s medical developments depend on today’s discoveries. It is, therefore, crucial to continue our efforts relentlessly! More than ever, we have a duty to persevere and invest, for the sake of our patients! Together, we form a close-knit team, committed to making our Myology Foundation Ambition* a reality.* In the fight against neuromuscular disease, every gesture counts. Thank you for your unwavering trust and for everything you are doing for us, and especially WITH US! Support us and make a donation, click here > https://ambitionfondationdemyologie.org Thank you to everyone! 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
MYOLOGY 2022 – sept. 12-15 & mitoNice – sept. 15-17 The deadline for submitting abstracts (posters and oral communications) is March 15, 2022. Registrations for both congresses are open and at “early bird” rates until May 31 2022. MYOLOGY2022 will be chaired by Elizabeth McNally (Chicago,USA) and Shahragim Tajbakhsh (Paris France) and miyoNice by Véronique Paquis-Flucklinger (Nice, Paris) and Valerio Carelli (Bologna, Italy). Read more
AcadeMYO 2022: July 11-13, 2022 Save the date! AcadeMYO, virtual version of our Summer School of Myology, will take place on July 11-13, 2022. Registrations will open in April. Read more
Charles Frison-Roche wins Oral Research Communication Prize awarded by SFM Charles Frison-Roche is a PhD student in the REDs team headed by Denis Furling. His thesis project relates specifically to the loss of function of these proteins in motor neurons and its impact on the maintenance and function of the motor unit. Read more
Myobank-AFM ’s quality certification is renewed for 3 years An audit conducted by AFNOR Certification carried out in November 2021 has just certified Myobank-AFM for the next three years according to the Quality standard for biological resource centers. Read more
Back to the 26th Journées of the Francophone Society of the Peripheral Nerve The 26th Journées of the Francophone Society of the Peripheral Nerve brought together 240 participants, health professionals, clinicians, researchers on cross-cutting themes from nerve to muscle. Read more
Call for volunteers for the MYaEX study in Myasthenia gravis We are looking for patients with autoimmune myasthenia, congenital myasthenic syndrome or Lambert Eaton's myasthenic syndrome, aged over 18 and residing in mainland and overseas France, to respond to an online survey (in French) of 30 minutes approx. Thank you in advance for your precious collaboration! Read more
Crossing perspectives of I-Motion Adults clinical trial platform and its challenges Crossing perspectives of the platform: Dr Giorgia Quérin ((Neurologist, Coordinating doctor of Adults I-Motion platform), Kubéraka Mariampillai (Project manager) and Pr Olivier Benveniste (Head of the Inflammatory Myopathies team at the institute's Myology Centre for Research), platform user. Read more
Our latest news
McArdle disease phenotype description enriched with muscle imaging data Fifteen adults aged 25 to 80 with McArdle myopathy underwent whole-body muscle MRI from which they benefited made it possible to analyze 60 muscles in particular and to specify the phenotype. Read more
The Myomex trial supports the prescription of mexiletine in non-dystrophic myotonias The Myomex trial evaluated the efficacy and safety versus placebo of a daily dose of 600 mg of mexiletine (Namuscla®) in 25 participants. Read more
Alternative splicing helps control the plasticity of clathrin structures Depending on cell types, clathrin assembles into plaques or produces spherical structures for some unknown reason, just as we do not know how this plasticity is controlled during differentiation. Read more
Evaluation of a reference method to assess the function of the diaphragm The link between transdiaphragmatic pressure and diaphragmatic thickening fraction is a gold standard method for assessing diaphragmatic function that is not clearly established. Read more
Idiopathic inflammatory myopathies: links between interstitial lung disease and myositis-specific autoantibodies One of the most common extramuscular manifestations of idiopathic inflammatory myopathies is interstitial lung disease. In addition, the diagnosis of IMI includes the search for myositis-specific autoantibodies. Read more
More breaking news
Muscle damage in women transmitting DMD / DMB more common than expected Until now, it was considered that only a minority (5 to 22%) of women with dystrophin gene abnormalities developed muscle or heart damage. A new Danish study carried out on more than 50 women carrying an anomaly of this gene showed that more than 80% of them showed signs of muscle damage. Read more
How to optimise gene therapy by AAV in humans, from an immunological point of view? At a time of unprecedented development of AAV-based gene therapies in neuromuscular disease, and in view of the difficulties encountered during therapeutic trials and in a real-life setting, German researchers have reviewed possible ways of improving the coexistence of humans with AAV itself. Read more
Spinal muscular atrophy A specific metabolic profile probably useful as a biomarker in SMA Nusinersen in real life in the United States: a study highlights the difficulties of compliance A new non-invasive biomarker in SMA Circulating neurofilaments: a sensitive biomarker in SMA
Metabolic myopathies Early muscle damage in Glycogenosis type IIIa Next-generation sequencing of mummified remains of 14th century Italian nobleman detects first known case of Pompe disease Clinical outcomes of two new generation enzyme therapies in Pompe disease International guidelines for glycogen storage disease V & VII
Charcot-Marie-Tooth disease Publication of the results of the PLEO-CMT trial evaluating the PXT3003 in CMT1A Hereditary neuropathy with TFP protein deficiency responds to specific treatment The iMAX helps to better evaluate motor axonal excitability in the neuropathies
Inflammatory myopathies A more severe subtype of antisynthetase syndrome Norwegian study clarifies clinical profile of chronic forms of juvenile dermatomyositis A case of necrotising autoimmune myopathy with inflammatory skin lesions
Duchenne muscular dystrophy A meta-analysis highlights the superiority of deflazacort in DMD A technological breakthrough in non-invasive prenatal screening for DMD DMD as seen by caregivers: a new measurement tool is available
Congenital myopathies Liver damage in myotubular myopathy Congenital myopathy due to SPEG deficiency is very commonly associated with severe cardiomyopathy
Limb-girdle muscular dystrophies Chronic pain, a symptom to look for in LGMD A first survey of limb-girdle muscular dystrophy in Mali
COVID-19 Autoimmune neurological complications after Covid-19 vaccination remain exceptional The assessment of neuromuscular disease patients by physiotherapists is adapting to pandemic conditions
Basic research and other disorders A natural history study in a population of children with FSHD Mechanisms and future treatments for myasthenia gravis debated at International Society of Neuroimmunology (ISNI) congress BET1, a new congenital muscular dystrophy gene identified Images suggesting normal pressure hydrocephalus are frequently found in DM1 Continuous non-invasive ventilation may be an alternative to tracheostomy ventilation Italian observation confirms the involvement of the p.S85C variant in distal myopathy linked to the MATR3 gene Advances in the pathophysiology of myoglobinopathy MADD deficiency is particularly common in China and responds to vitamin therapy A European position statement on the role of rehabilitation physicians in the care of patients with muscular dystrophy Galectin-1: an innovative therapeutic approach in dysferlinopathies Benefits of wheelchair hockey identified in SMA and DMD
In brief
First-ever United Nations resolution to increase visibility for persons living with a rare disease and their families On 16 December 2021, the UN adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families.” A huge recognition for families with rare diseases. Read more
European Congenital Myopathies Virtual Masterclass - February 22&23 This virtual masterclass, organized by the European TREAT-NMD network, aims to inform healthcare professionals caring for CM patients about the latest discussions in diagnosis, natural history and care. Read more
EMBO muscle meeting “Muscle formation, maintenance, regeneration and pathology” - April 24-29 EMBO muscle meeting “Muscle formation, maintenance, regeneration and pathology” which will take place in-person from the 24th to 29th of April at the amazing venue of Château de Montvillargenne in Gouvieux-Chantilly, close to Paris France. Abstract submission deadline: February, 15, 2022. Read more
International Congress on Neuromuscular Disease -July 5-9 The 17th International Congress on Neuromuscular Diseases is scheduled to be held in Brussels, Belgium, July 5-9. Read more
Rare Disease Day - February 28, 2022 As part of the 15th edition of this day, an awareness campaign for rare diseases "making the invisible visible" will be rolled out. Read more
Job opportunities The Institute of Myologie is recruiting a Data project manager, a Clinical research associate (in French) and a Laboratory assistant (equivalent to research engineer, in French). Read more

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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. Also participate: Lawrence Chamber. Do you have any questions? Would you like to share some news? Please contact us. © 2022 - 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.