Newsletter #84

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	Newsletter #84

The muscle, a key organ, essential in vaccination Welcome to the latest issue of our newsletter! The COVID-19 vaccination campaign is being discussed everywhere. It raises multiple questions, but do we know why vaccines, and in particular messenger RNA vaccines, have to be injected intramuscularly (into the muscle)? Whether it’s a vaccine for COVID-19, the flu or hepatitis B, the optimum route of administration is, for several different reasons, the same: an injection into the muscle, most commonly the shoulder muscle, the deltoid. During vaccination, the muscles activate several different mechanisms that produce antibodies. One of these mechanisms is based on the ability of muscle cells to express one or more proteins specific to the infectious agent. This protein behaves like an antigen, i.e. a molecule capable of being recognised by the immune system and activating the B and T cells, two types of white blood cell, that will come to recognise this antigen as a foreign substance and secrete antibodies to combat the infection. > Further details in The muscle, an essential partner in vaccination
At the Institute
Study of long, non-coding RNA in a cohort of Becker muscular dystrophy patients: Applicability to the design of the exons 45-55 skipping therapeutic strategy for DMD An interview with Elena Gargaun, MD, PhD in cellular and molecular biology, who carried out her thesis work within the team "Gene therapy for DMD & pathophysiology of the skeletal muscle" at the institute, under the supervision of France Piétri-Rouxel. Read more
DMD: start at I-Motion of a gene therapy trial using a microdystrophin designed by Genethon in collaboration with Sarepta Therapeutics As part of this international trial, coordinated by Prof. Francesco Muntoni (London), young boys with Duchenne muscular dystrophy will be included in the United Kingdom, the United States, Israel and France, at I-Motion for Paris Read more
Laure de Pontual winner of the 2020 Master Prize awarded by the SFM This prize rewards her academic background and encourages his thesis project which focuses on the identification of new factors involved in the formation of CTG repeat contractions in myotonic dystrophy type 1 (DM1). It will be pursued at the institute in the Furling/Gourdon team, under the supervision of Stéphanie Tomé. 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 Apr!l and May 2021: Sonia Alonso Martin, Benjamin Prosser, Walter Herzog, Guillaume Millet and Lori L. Wallrath. Read more
New version of the Muscle Atlas The Atlas evolves regularly, the version currently online is the third one. The main changes since the first version are: the number of images (from 1600 to 3598 images in the database), the introduction of families of diseases to make research easier, the association of the diseases described with the link OMIM, International Disease Registry on NCBI, and fixed several bugs in different names. Read more
The Summer School of Myology 2021 turns virtual In view of the health situation, the Summer School of Myology 2021, originally scheduled in-person mid-June 2021, will take place early July 2021 (most probably on July 5-9) in virtual mode. The course will include a streaming platform enabling access to twenty or so hours of pre-recorded lectures as well as three 4-hour interactive workshops broadcast live during the week. Read more
Our latest news
COVID-19 and myasthenia gravis: the French Co-My-Covid study delivers some fairly reassuring first results In the spring of 2020, twelve centres in the FILNEMUS network started to put together a cohort of patients with myasthenia gravis who had contracted COVID-19. This database, named Co-My-Covid and led by Bordeaux University Hospital, was developed with support from AFM-Téléthon. Read more
A study carried out in France compared the withdrawal arrangements of corticosteroids in myasthenia gravis From a group of 2291 patients followed for MG within the network, 117 with moderate or severe forms of the disease were selected to participate in a randomized study called MYACOR. Read more
Inclusion myositis and sirolimus: the final results of the Rapami trial pave the way for a phase III For the investigators, the benefits of sirolimus on the 6-minute walk test could be explained by more respiratory and metabolic effects than muscular. They are sufficient to justify the launch of a large phase III trial. Read more
Dysferlinopathies with late onset (beyond the age of 30) have phenotypic peculiarities Clinicians from the Institute of Myology collected clinical and biological data from patients with late-onset dysferlinopathy who participated in the international natural history protocol. Read more
An ancillary imaging study confirms the potentially deleterious role of intensive sports practice in dysferlinopathies Researchers involved in the natural history of dysferlinopathies protocol took an interest in this subject in particular by carrying out an ancillary study of the natural history study Jain COS. Read more
A survey of European patient organisations confirms the value of neonatal screening in neuromuscular diseases The Advisory Committee of Patient Associations of the Euro-NMD Reference Network reports the results of a survey of 30 neuromuscular patient associations located in 18 European countries. Read more
New results for golodirsen in DMD demonstrate a tendency to protect muscle from degeneration The latest results that have appeared relate to the analysis by immunofluorescence of several muscle proteins, based on muscle biopsies from 25 trial participants, taken 48 weeks after treatment, for the purpose of establishing a relationship with the dystrophin activity produced by the exon skipping. Read more
More breaking news
Eteplirsen appears to be able to maintain walking in patients treated for 4 years Eteplirsen (Exondys51®) is an antisense oligonucleotide targeting exon 51 skipping in the DMD gene. Developed by the Sarepta Therapeutics and conditionally authorized on the US market, eteplirsen enables the production of dystrophin in muscle. Read more
DM1: systematic neonatal genetic screening reveals a five-times greater prevalence Systematic dried blood stain screening, searching for CTG expansion characteristic of Steinert's disease, was performed among all newborns in New York State (United States) between December 2013 and April 2014. Read more
Spinal Muscular Atrophy Zolgensma®: significant uncommon adverse events to be aware of and monitor New positive results for nusinersen with EMBRACE trial Frequent feeding difficulties in type II SMA and effective gastrostomy A positive outcome for magnetic growth rods in severe SMA scoliosis A European survey highlights the burden of type I SMA for “informal” caregivers Type I SMA: the absence of speech is accompanied neither by an inability to decipher verbal language, nor by cognitive impairment SMA: the EMA CHMP issues a positive opinion for risdiplam Cohort Temporary Authorisation for Use for risdiplam in SMA type I, II and III
Duchenne and Becker muscular dystrophies Resveratrol, an antioxidant tested in DMD, DMB and Fukuyama’s disease for 24 weeks, would improve motor function in less severe patients SRP-4045 is the 3rd antisense oligonucleotide to obtain conditional marketing authorization in the United States Eteplirsen, an antisense oligonucleotide authorised in the United States, seems to preserve ability to walk in patients treated over a 4-year period
Charcot-Marie-Tooth disease Update on purely motor hereditary neuropathies: about two major Spanish and Chinese series Although rare, border forms between CIDP and CMT also exist in children Histone deacetylase 6 inhibitors studied in CMT 1A Muscle MRI is useful to differentiate neuropathies and follow them up over the long-term, whether they are acquired or hereditary
Myasthenia Gravis Myasthenic attack and ventilatory assistance: a tracheostomy is necessary in half of the cases Subluxation of the eyeball: an exceptional iatrogenic complication in myasthenia gravis New publications confirm the benefits of eculizumab in refractory myasthenia gravis with AChR antibodies Double seropositive myasthenia would appear not to be a separate group
Inflammatory myopathies Bimagrumab confirms its good long-term tolerability in sporadic inclusion myositis … and its lack of functional efficacy Inclusion body myositis with or without anti-cN1A; no (distinguishable) difference
Facioscapulohumeral myopathy More or less promising new therapeutic approaches in FSH A large Italian cohort confirms the complexity in interpreting borderline FSHD genotypes
Basic research and other disorders A nucleoside-based treatment to improve respiratory impairment in TK2-deficient myopathy ? Muscular dystrophies with collagen-VI deficiency: predictive indices of the long-term phenotype? Compensation for the consequences of motor deficit in the upper limbs: an Italian study compares two commercialized articulated arms Facial recognition for an early diagnosis of Andersen-Tawil syndrome Sporadic late-onset nemaline myopathy (SLONM): a rare observation of reversible heart damage Dysphagia and dysarthria in children with NMD: about a Dutch survey New information from clinical trials on Pompe disease
In brief
WMS 2021 WMS 2021 Virtual Congress will take place 20-24 September 2021. Abstract submission deadline is 9th April 2021. Read more
ERN Euro-NMD webinars The next webinar organized by the European network Euro-NMD will take place soon: "Modeling disease progression in GNE myopathy" by Melanie Quintana, PhD (Senior Statistical Scientist at Berry Consultants). Read more
International Women in Science Day On the occasion of the International Women in Science Day, we would like to pay tribute to all of our Institute researchers and clinicians. We are proud to have nearly 2/3 of female talent in our workforce. Read more

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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