Newsletter #80

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	Newsletter #80

87 026 262 euros raised for the 2019 Telethon! Last December 6th and 7th, people all across France rallied in favour of the 2019 Telethon, with donations totalling 74.5 million euros by the end of the television broadcast. Today, a few months later, we are very proud to announce the final result of our 2019 fundraising campaign: 87 026 262 euros. This victory was achieved after many battles! It is one of the results of a medical revolution that accelerates with the growing number of innovative treatments. Thanks to your exceptional mobilization, new clinical trials should start and ten or so others should develop further in our laboratories in 2020. All the projects we undertake, all the research we fund through the Telethon, are as many hopes for the families who await for treatment. We know it now: overcoming disease is possible. Together, we can give children, and patients, the strength to heal! Patients and their families thank you a thousand times!
The institute tackling COVID-19
Dominique Duchêne: COVID-19, consultations and clinical trials Interview with Dominique Duchêne, Project Manager, Clinical Research Associate (CRA) Manager at I-Motion. The onset of the epidemic forced us to partially close the hospital facilities. Our priority has been the safety of our young patients who are frail in terms of having cardiac and/or respiratory problems. Since 11 May, we have organised the gradual return of patients to the site. Read more
Isabelle Coupa: COVID-19 and the organisation of the neuromyology consultation Interview with d’Isabelle Coupa, Nursing Manager at the Institute of Myology’s Service of Neuro-Myology. At the very beginning of the epidemic, the team came together collectively in the Service of Neuro-Myology to reflect on how to put in place new organisational measures based particularly on tele-consultations. From 11 May onwards, with the gradual easing of the lockdown announced by the government, the team reflected again on the patient pathway and care, in order to continue to comply with the restrictive measures and to protect patients as much as possible. Read more
Our latest news
The neurospecific expression of SMN is necessary but not sufficient for the survival of SMA mice – Interview with M.G. Biferi & A. Besse Maria Grazia Biferi and Aurore Besse hark back on the article they published in Mol Ther, relating A. Besse doctoral research work. Read more
What is the purpose of the exon in the modelling of clathrin structures in muscle cells? - Interview with S. Vassilopoulos Stéphane Vassilopoulos and his group are interested in the muscle cell membrane proteins, and more particularly in clathrin and its involvement in myopathies. ; he just published an article on the modelling of clathrin structures in muscle cells. Read more
Ganglionopathies associated with MERRF syndrome: an original report In MERRF syndrome, neuropathies are common but no ganglionopathy has ever been reported. Read more
Dermatomyositis associated with anti-MDA5 is divided into three subgroups A large observational study conducted between 2011 and 2017 in 37 French hospitals included 83 patients with anti-MDA5 autoantibodies confirms that anti-MDA5 patients form a distinct group, itself composed of 3 subsets of different prognoses. Read more
miR-379 links glucocorticoid therapy to mitochondrial response in DMD Analysis of miR-379 which is expressed at a high level in muscle and known to be responsive to glucocorticoids (GC), a class of anti-inflammatory drugs commonly used in patients DMD. Read more
In dystrophic mdx mouse, desmin prevents muscle wasting, exaggerated weakness and fragility and fatigue Desmin, like dystrophin, is associated with costameric structures connecting the sarcomeres to the extracellular matrix which contributes to muscle function. Read more
Arboviruses and muscle disorders: from pathology to cell biology In humans, symptoms associated with an acute infection of most arboviruses are often described as a "dengue-like syndrome", including fever, rash, conjunctivitis, arthralgia, and muscle symptoms such as myalgia, myositis or rhabdomyolysis. Read more
Myasthenia gravis : role of miRNAs in normal and pathological thymus The authors identified a set of highly expressed miRNAs defined as ThymiR and studied the expression of miRNAs in infants versus adults to determine which ones are associated with human thymic involution. Read more
Determinants of performance of the TUG and 6MWD in young and old healthy adults The authors assessed associations between performance of the timed up-and-go (TUG) and the six-minute walk distance (6MWD) with physiological characteristics in healthy adults, young and old. Read more
CMT: the SORD gene could be involved in almost 10% of undiagnosed CMT2 cases The work of the Inherited Neuropathies Consortium (INC) have highlighted the involvement of the SORD gene in CMT2. The protein SORD (or sorbitol dehydrogenase) takes part in a reaction which transforms sorbitol into fructose. Read more
Long-term benefit of ERT in adults with Pompe disease The authors report here the results of a study carried out on 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests. Read more
More breaking news
Zolgensma® has obtained conditional marketing authorisation in Europe and cohort ATU in France Zolgensma® (onasemnogene abeparvovec), administered intravenously with a single injection, has just obtained conditional marketing authorisation from the European Commission for SMA. With regard to France, Zolgensma® has been dispensed in the context of a cohort ATU (Temporary Authorisation for Use) since 25 May 2020. Read more
DMD and corticosteroids: a contribution from the UK confirms their benefit for respiratory and cardiac function The Neuromuscular Centre at UCL in London reports the results of a retrospective study to compare changes in respiratory and cardiac function for 270 children being followed up for DMD in a single centre. Read more
Spinal muscular atrophy A novel approach for posterior spinal instrumentation and fusion taking into account treatment with nusinersen Feedback from nusinersen in adults with SMA Impact of a national genetic carrier-screening program for reproductive purposes Longer-term confirmation of positive results from NURTURE trial in presymptomatic SMA Case report of a 71-year-old female patient successfully treated with nusinersen The first lessons from the neonatal screening program for SMA in New York State A program to promote clinical trials in SMA in the United States
Myasthenia gravis Efgartigimod in Myasthenia gravis : the ADAPT phase III trial would have met its primary efficacy endpoint Single-breath count test by phone helps to identify myasthenic crises
Facio-scapulo-humeral muscular dystrophy A review of the literature highlights the positive results of surgical fixation of the scapula in FSH Genetic abnormalities in the gene LRIF1, a rare cause of FSH2?
Basic research and other disorders Dysphagia and dysarthria in children with NMD: about a Dutch survey Andersen-Tawil Syndrome type 1 (ATS1): publication of the largest series of patients in the world Myotubular myopathy and peliosis hepatitis: a non incidental association Sport activity improves mental and social well-being in NMD patients New study argues for a 4-time higher dose of enzyme in infantile-onset Pompe disease DM1 and metformin : new biological evidence CMT and pregnancy : a study conducted in Germany confirms scarcity of complications A meta-analysis estimates prevalence of DMD worldwide
In brief
AFM-Téléthon annual calls for proposal Publication of the 2021 provisional calendar for fellowships and research grants. The deadline for submitting projects is: October 2020 for research grants, January 2021 for post-doctoral fellowships and April 2021 for PhD fellowships. Read more
First TREAT-NMD LGMD Expert Masterclass - 23-24 September 2020 - Online Applications are open for the LGMD Masterclass which was due to take place as a face-to face meeting in Washington DC on 23-24 September. It will finally take place as a virtual e-learning event. Read more
ICNMDigital - 11-14 September 2020 - Online Registration is open for the 4-day online ICNM congress featuring presentations on the whole spectrum of neuromuscular diseases. Read more
WMS25 - 30 September-2 October 2020 - Free online access World Muscle Society 2020 Congress due to take place in Halifax, Canada will finally be held on 30th September – 2nd October 2020 as a virtual congress. Read more

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Legal This is the newsletter of current medical science from the Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chambers; Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2020 - AFM - Institut de Myologie. ISSN 1772-9866