Newsletter #82

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	Newsletter #82

The teams of the Institute of Myology fully committed and organized despite the crisis Regarding this second period in the health crisis we are going through and strengthened by the measures provided in the first period, our teams have been able to adapt and know how to work in an epidemic situation. Some of our staff have unfortunately been affected but outside of the scope of their work, indicating that our procedures protect both patients and professionals. We still welcome patients for therapeutic care and clinical trials and our research teams are also continuing their activity even though it had to be slowed down due to the reduction of teams on the spot within our laboratories. Nevertheless, we must not lose sight of our strategic objectives and we are doing our best to stay committed to our ongoing projects by joining forces and resources. Regarding the Telethon which will be held in a few days, Laurence Tiennot-Herment, President of the AFM-Telethon, launches an emergency communication and underlines that this year, the festive activities of the Telethon, which represent 40% of the fundraising, are prevented by the health crisis and confinement. > Watch the emergency communication of Laurence Tiennot-Herment (in French) In this unprecedented context, we must all join forces and unite around the Telethon. The spirit of the Telethon is the sharing, the solidarity, the generosity, values that we must strongly defend because the Telethon is a true highlight of our country that combines the strength and the fighting spirit of families, the talent of researchers and physicians and the commitment of volunteers. Together and united, we will face the challenges and make this Telethon the success it deserves to make research go on towards innovative therapies and save lives. >Help us by making a donation on our collection page (in French) Thank you!
At the Institute
Innovation for the non-invasive assessment of the diaphragm – Interview with T. Poulard and D. Bachasson Thomas Poulard and Damien Bachasson from the Neuromuscular Physiology and Evaluation Laboratory have just published the results of a study to develop an ultrafast ultrasound sequence making it possible to “film” diaphragm performance during cervical magnetic stimulation (CMS) of the phrenic nerves in healthy subjects. Read more
Dr Emmanuelle Lagrue, MD-PhD, pediatric neurologist, joins Généthon and I-Motion Dr Emmanuelle Lagrue, MD-PhD, pediatric neurologist, simultaneously joins Généthon, the AFM-Telethon laboratory dedicated to gene therapy, as Senior Medical Manager, and I-Motion, the pediatric clinical trials platform of the Institute of Myology, as Deputy Director. By dividing her time between these two structures of the AFM-Telethon, Dr Lagrue will participate in the development of innovative therapies and will bring her experience to the service of optimizing therapeutic trial protocols and mobilizing clinical networks. Read more
Operation ‘1000 researchers at schools’ is ongoing The operation ‘1000 researchers in schools in France and abroad’ intended to bring together researchers and middle school students to share a moment and discover the reality of research. Read more
Monday Muscle Seminar – M&M’s Monday Muscle Seminars - M & M’s are seminars organized by the Institute's Myology Centre for Research. They are held by videoconference on Mondays. Persons apart from the Institute of Myology can attend after registration. Read more
Our latest news
Ever more precision and speed in magnetic resonance muscle imaging Imaging has become over the past fifteen years a complementary tool to reach a diagnosis but is also became essential as a reliable and non-invasive biomarker in the context of the natural history of a muscle disease or a therapeutic trial. Read more
DM1: the beneficial effects of cognitive behavioral therapy are observable on MRI The European OPTIMISTIC trial showed, in 231 patients with Steinert’s disease ( DM1) suffering from severe chronic fatigue, that people who received cognitive behavioral therapy (CBT) for 10 months are more active during the day. This brings a change in the muscle that can be quantified with MRI. Read more
A gene therapy effective for respiratory function as well in Pompe disease A clinical trial with this gene therapy conducted by pharmaceutical company Sparks Therapeutics, which entered into a licensing agreement with Généthon in 2017, is in preparation in 20 adults suffering from a moderate late form of Pompe disease, treated for at least two years by enzyme replacement therapy. Read more
Bioengineering design of a new functional motor unit platform to study neuromuscular interaction In many neurodegenerative and muscle disorders, as well as the loss of innervation seen in sarcopenia, improper reinnervation of muscle and dysfunction of the motor unit (MU) are found, two key pathogenic features. Read more
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies The aim of this retrospective multicentric study, carried out in 4 centers in the region of Paris, collecting neuromuscular, respiratory, cardiac, histological and genetic data was to describe a large series of patients with α, β and γ sarcoglycanopathies and to study phenotypic correlations and disease progression. Read more
Interferences between innate adaptive immunity and that of T cells, with and in muscle Evidence is accumulating that demonstrates a continued interaction between the immune system and skeletal muscle in inflammatory diseases of different pathogenic origins, in dystrophic conditions such as DMD as well as during normal muscle regeneration. Read more
First mutations of the TNNT1 gene described in France High-throughput sequencing (NGS for next-generation sequencing) lends itself very well to the simultaneous exploration of all these genes, as illustrated by this article by French clinicians and biologists published in September 2020. They report the first three cases of recessive mutations of the TNNT1 gene in French pediatric patients. Read more
Mosaic mutations in the ACTA1 gene causing early and asymmetric muscle deficits The authors report here two original observations of patients with asymmetric muscle deficit since birth, with delayed motor acquisitions, and having progressed to scoliosis as well as respiratory failure with decrease of vital capacity. Read more
More breaking news
WMS 2020: an unprecedented edition that took place "online"! It is in the current, unprecedented health context that the World Muscle Society (WMS) organised its first 100% virtual Congress for the 25th edition. From 28 September to 2 October 2020, researchers, clinicians and other muscle experts were invited to connect to a platform, to listen and then participate in video-conferences, view “e-Posters", follow symposia organised by pharmaceutical companies, etc. Read more
MFM is establishing itself as a functional scale in neuromuscular diseases, especially in SMA Tools intended to measure, as objectively as possible, motor strength and/or function in patients with neuromuscular diseases have proliferated in the last few years, especially in the context of innovative therapies appearing on the market. Motor function measure (MFM) is a scale that was developed by a Lyon-based team. Read more
Spinal muscular atrophy Combining newborn screening and treatment with nusinersen is the best therapeutic option from a medico-economic point of view Decline in muscle strength observed in SMA is linear according to Dutch study Nusinersen temporary reduces the fatigue experienced by adults with SMA Diagnose SMA with next-generation sequencing techniques? A group of European experts publishes 11 recommendations for the treatment of SMA with Zolgensma® Italian study shows efficacy of nusinersen in large cohort of adults with type 3 SMA A sequential bitherapy in SMA: about five cases in the USA SRK-015 could be a additional treatment to therapies targeting SMN The natural history of type III SMA becomes clearer Hand strength is improved with nusinersen in adults with SMA SMA: newborn screening and amplitude of CMAP under review
Duchenne muscular dystrophy US qualitative study explored announcing DMD diagnosis to siblings A biomarker of corticosteroid response identified in DMD DMD and osteoporosis: a parathyroid hormone analogue could be beneficial Ataluren found to be globally effective in DMD, especially in patients with good initial walking ability, according to three meta-analyzes DMD: ventilation, even invasive, does not deteriorate the quality of life
Myasthenia gravis Myasthenia gravis is often accompanied by psychiatric comorbidities Myasthenic crisis, a possible cause of post-traumatic stress Pregnancy in a woman with myasthenia gravis, a risky situation North American study supports the hypothesis of a genetic background predisposing to autoimmune diseases in general, and myasthenia gravis in particular
Inflammatory myopathies Some cases of scleroderma are associated with myositis specific autoantibodies Creatine would improve muscle metabolism but not performance in juvenile dermatomyositis Inclusion myositis is often accompanied by a neuropathy
Facio-scapulohumeral myopathy FSH1: a 5-year observational study A new study confirms high incidence of retinal damage in FSH
Basic research and other disorders Limitations of whole exome studies: about an observation halfway between congenital myasthenic syndrome and mitochondrial disease Titinopathies: an increasingly well-known group of NMD Supervillin deficiency: a new form of myofibrillar myopathy No typical profile of sialylation in muscle cells from patients with GNE myopathy AMO-02, a potential treatment for congenital and infantile forms of myotonic dystrophy type 1 ? Tongue pressure measurement: a simple tool that can be used on an outpatient basis in NMD with dysphagia
In brief
ERN Euro-NMD webinars The next webinars organized by the European network Euro-NMD will take place early December. « Functional movement disorders: a diagnostic guide » by Christos Ganos (University Medicine in Berlin, Germany) on 1 December, and « Myasthenia Gravis » by Prof Isabel Leite (University of Oxford, UK) on 10 December. Read more
7th Congress of the EAN - 19-22 June 2021 - Vienna, Austria The next congress of the European Academy of Neurology will be held in Vienna, Austria, from 19 to 22 June. Read more
Job opportunities The Institute of Myology is recruiting a Project Manager (M/F) for ERN EURO-NMD and a Fellow (M/F) for the service of Neuro-Myology of the institute. 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. © 2020 - AFM - Institut de Myologie. ISSN 1772-9866