Newsletter #83

Check the mail online click here

	Newsletter #83

2021: life, let’s put some muscle into it, together Dear patients and families, Dear donors, Dear partners, We wish you a very happy New Year and excellent health. We hope this New Year brings you the energy for renewal needed to accomplish the projects close to your heart, and we hope these projects are numerous and inspiring! We warmly thank all the generous donors who supported us in 2020 despite a situation that was difficult for every one of us. This support is key to our research and care work, and allows us to progress ever further our projects and our scientific and medical advances for the benefit of rare diseases. It is crucial that we pursue relentlessly our research work in the area of the muscle, a life-giving organ and a public health challenge, and its diseases. Our researchers and our doctors are mobilised, more than ever, at the Institute of Myology, to continue to progress key projects and to realise new clinical trials. All together, we are committed to advancing our knowledge of the muscle and to fighting ever further and ever harder to cure neuromuscular diseases. We are creating a dynamic of new research projects towards a single ambition: our future Muscle Foundation, focused on the interests of the patient, Myology and its advances. The year 2020 marked a turning point with the appearance of the first innovative gene therapy treatments for certain rare diseases, developed by Généthon, another AFM-Téléthon laboratory. A medical revolution is well and truly underway, and this is only the start, since a victory over one disease will benefit dozens of others. We remain by your side, advancing research and developing care and treatments for neuromuscular diseases. However, we also need you to support us in our daily work and our fight to achieve multiple victories against neuromuscular diseases. Your donations also give us strength in uniting fundamental and clinical research, care, clinical assessment and teaching, thus creating via our future Myology Foundation a veritable innovation accelerator to defeat neuromuscular disease and to improve the health of the greatest number of people possible. To support us and make a donation, please click here > https://don.institut-myologie.org/ Thanks to everyone! Pr Bertrand Fontaine, Medical and Scientific Director Dr Vincent Varlet, Secretary General
At the Institute
Validation of a new approach for the non-invasive assessment of muscle volume - Interview with D. Bachasson and J.-Y. Hogrel The method presented in this work relies on the study of the electrical properties of the body’s tissues. The principle behind bio-impedancemetry is the introduction of an imperceptible electric current into the body and the study of how the body, as a result of its composition, modifies the introduced current. Read more
Ana Ferreiro is the winner of the Friedrich Wilhelm Bessel Prize Ana Ferreiro received the prestigious Friedrich Wilhelm Bessel Research Prize awarded by the Alexander von Humboldt Foundation in Germany. Neurologist by training and holder of a thesis in molecular biology, Ana Ferreiro has been working for twenty years on congenital myopathies. She is, inter alia, clinician at the Institute of Myology. Read more
Next M&M's – Muscle Monday Seminars M&M’s – Muscle Monday Seminars are organized by the Myology Centre for Research, at the Institute of Myology. They are given by videoconference. Next guests in February and March 2021: Marco Narici, Antonio Musaro, WhiteLab Genomics, Werner Stenzel, Abigail Mackey, Annemieke Aartsma-Rus and Arielle Santé. Read more
Our latest news
A composite score to assess the evolution of SMA in adults For the first time, a longitudinal study, with the participation of the Institute of Myology, was carried out in adults with type III SMA or IV SMA in order to assess the sensitivity of several evaluation tools in disease monitoring. Read more
MFM-32, MyoGrip, MyoPinch et ActiMyo, evaluation tools developed at the Institute of Myology sufficiently sensitive to detect a significant decline over 1 or 2 years in type II et III SMA One of the objectives of the NatHis-SMA study, besides describing the natural history of type II and III SMA over two years, was to verify whether monitoring tools such as "Myotools", which are being developed at the Institute of Myology, are sensitive enough to demonstrate functional or biological variations over this period. Read more
The global quantification of muscle in MRI is more interesting than an analytical approach by muscle to judge the evolution of many neuromuscular pathologies Magnetic resonance imaging plays a role not only in establishing the diagnosis of a good number of acquired or hereditary neuromuscular diseases but also in the evolutionary monitoring of the patient, whether in an individual setting or in a therapeutic protocol. Read more
A very low residual amount of dystrophin would be enough to transform DMD into BMD A French team from the FILNEMUS network sought to determine the effects of a small amount of dystrophin by analyzing data from 90 patients with a mutation in the DMD gene, collected in the UMD-DMD France database. Read more
Myopathy linked to SELENON: an international retrospective study of 132 children and adults specifies the long-term natural history and the severity criteria An international team of clinicians, including experts from the Institut de Myologie (Paris), published in September 2020 a retrospective study of 132 people with SELENON-related myopathy (ex-SEPN1), aged 2 to 58 years with a follow-up of 8 months to 25 years. Read more
Classical pharmacological clinical trials and the potential of gene therapy in ALS Despite remarkable progress in understanding the pathological mechanisms of the disease, classical pharmacological clinical trials have failed to effectively cure ALS over the last twenty years. Read more
More breaking news
Genethon gets the green light from the ANSM to start an innovative gene therapy trial for DMD This trial’s goal is to assess the safety and efficacy of an innovative gene therapy designed at Généthon, combining an AAV-type viral vector with a shortened version of the dystrophin gene, “microdystrophin”. Read more
Ophthalmologic monitoring is no longer compulsory for people with SMA treated with risdiplam (Evrysdi®) As retinal toxicity was reported in preclinical studies, ophthalmologic monitoring was performed every 2 to 6 months in 245 people receiving risdiplam in the SUNFISH, FIREFISH and JEWELFISH trials. No abnormalities of the retina, neither functional nor structural, were noted. Read more
First results from the EUROMAC register This register, set up with the support of the European Union, has collected data from patients with McArdle disease as well as other muscle glycogenoses, except for Pompe disease which has its own registry. Complete data from 282 participants was collected. Read more
Duchenne and Becker muscular dystrophies DMD: a meta-analysis points to the increased risk of heart complications from certain deletions in the DMD gene Vamorolone, a new anti-inflammatory, improves motor function in DMD without the side effects of corticosteroids Fifteen American experts agree on drugs useful for treating muscle damage in DMD Edasanolexent (CAT-1004), a nonsteroidal anti-inflammatory drug tested in DMD, broke promises: development halts after several clinical trials Epicatechin appears to be of short-term benefit in Becker’s myopathy SRP-5051, an antisense oligonucleotide of the PPMO type, would be more effective at a lower dose than etetplirsen for exon 51 skipping in DMD DMD: a CRISPR / Cas 9 approach for an effective treatment of muscles using stem cells Japanese phase I / II viltolarsen trial results in DMD confirm positive effects on dystrophin production and exon 53 skipping rate of DMD gene Intravenous injection of AAV-microdystrophin SRP-9001 induces dystrophin production in muscles but does not statistically demonstrate the functional benefits observed at one year
Spinal muscular atrophy Description of a large Brazilian cohort of type IV SMA The most frequent abnormalities of the SMN1 gene would concern exons 3 or 6 of the SMN1 gene in Brazil Natural history of respiratory function in SMA: focus on patients with types II and III Two studies clarify changes in respiratory function in children with SMA on nusinersen Spinraza® in type 0 SMA: a case study
Myotonic dystrophy type 1 A Quebec study identifies the predictive factors of social participation restriction in DM1
Charcot-Marie-Tooth disease CMT: greater pain after the first confinement The MME gene is often involved in axonal forms of late onset CMT
Myasthenia gravis Rozanolixizumab demonstrates some therapeutic potential in systemic MG in phase II trial European and American experts update their recommendations on myasthenia gravis
Inflammatory myopathies A prospective real-life study confirms safety and efficacy of quadrivalent HPV vaccine in young patients with juvenile dermatomyositis
Basic research and other disorders Retinal thickness in OCT, a potential biomarker of MELAS syndrome Titinopathies: the comparison of clinical and genetic data help to make certain diagnosis easier Large European study provides new phenotype-genotype correlations in sarcoglycanopathies The determination of alpha-glucosidase activity on fibroblasts provides the greater information in the biochemical diagnosis of Pompe disease The TOR1AIP1 gene, encoding the nuclear envelope protein LAP1, is involved in a form of CMS Muscle imaging specifies the phenotype in myosinopathy linked to MYH7 gene Anesthesia and NMD: a Dutch article compiles general recommendations and specific advice Tracheostomy and neuromuscular diseases: HAS publishes recommendations for clinical practice
In brief
Telethon 2020: 58 290 120 euros! At the end of the television broadcast, the counter of the 2020 Telethon shows 58 290 120 euros. Despite the health crisis, which led to the cancellation of a very large number of events in towns and villages, the French people responded positively to this extraordinary Telethon: the one presenting the greatest victories of its history. Read more
Mid-Career Mentoring Programme ENMC has developed a new Mentoring Programme especially designed for mid-career scientists, clinicians and health care professionals working in the neuromuscular field. Read more
Job opportunities The Institute of Myology is recruiting a Bio-informatic engineer – Projet manager (M/F) and a Radiographer (M/F) 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 disease. You can read our newsletter by subscribing. You can unsubscribe here.

Also follow our news on social networks

Legal 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. © 2021 - AFM - Institut de Myologie. ISSN 1772-9866