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Institut de la Myologie

Newsletter # 79

The Institute of Myology teams fully mobilised!

Welcome to our 79th newsletter!

After these last weeks of confinement, Dr. Vincent Varlet, Secretary General of the Institute of Myology, and Pr. Bertrand Fontaine, Medical and Scientific Director of the Institute of Myology, Head of the service of Neuro-Myology and Director of the Myology Centre for Research UMR 974 wish to send you a specific message.

During this period of major health crisis, all our teams (health professionals, researchers, technicians, engineers, support services…) remained very motivated to continuing their research activities and work, as far as possible.
Early anticipation allowed us to follow our Business Continuity Plan and maintain everything that was possible to maintain. However, some research work and clinical trials in progress unfortunately had to be stopped. We had to adapt to an unprecedented situation and rethink the way we operate.

But, thanks to the commitment of our teams and our responsiveness, we were able to save a certain number of health care and research activities.
The practitioners of the service of Neuro-Myology have identified the most fragile neuromuscular patients as a priority in order to continue to offer them the medical care they needed despite the context. We have also chosen to maintain some of our essential research activities and, in particular, specific clinical trials (within a framework of reinforced health security) whose abrupt termination would have resulted in the loss of all the work undertaken for years and would have had dramatic consequences for the patients.

We again wish to salute the extraordinary commitment of our staffs of physicians and caregivers – all mobilized – but also of our researchers, technicians and engineers from the Myology Centre for Research, who, despite the risks, volunteered to help the hospital roll back the virus. For example, our teams were urgently requested to provide assistance with the investigation of the CORIMMUNO-19 clinical trial.

Today, we must also think about the post confinement and ensure the future of our research and care activities to meet many challenges. We have all prepared for the resumption of our activities in a reduced and gradual way at first, in order to limit risks and losses, but we remain focus on our strategic objectives and do our utmost to pursue the advancement of our initiated projects by pooling our active forces and our resources.

Thank you all for reading and supporting us!

The institute tackling COVID-19
Since the start of the health crisis, our healthcare professionals and researchers have been mobilised to provide services for patients and have demonstrated a great capacity for adaptation:
Dr Giorgia Querin: COVID-19 and clinical trials Interview with Giorgia Querin, neurologist and Coordinating Doctor for the adult clinical trials platform at the Institute of Myology since January 2020. The organization has been reviewed to adapt to the situation and give priority to the clinical management of patients. Several measures have been undertaken in the Service of Neuromyology and in the adult clinical trials platform in response to the COVID-19 health crisis. Read more

Prof. Olivier Benveniste: COVID-19 and clinical research Interview with Prof. Olivier Benveniste, Director of research Team 8, “Inflammatory myopathies and innovative targeted therapies“, at the Institute’s Myology Centre for Research, University Professor – Hospital Practitioner at the Department of Internal Medicine and Clinical Immunology (the DMIIC) at the Pitié-Salpêtrière Hospital, Coordinator for the French National Myositis Network. Since the start of the current health crisis, he has been mobilized with his teams on several fronts and they must constantly organize themselves and rethink their way of working. Read more

Kubéraka Mariampillai: COVID-19 and clinical trials in adults Interview with Kubéraka Mariampillai, Project Manager for the Adult Clinical Trials platform at the Institute of Myology, headed by Prof. Bertrand Fontaine and coordinated by Dr Giorgia Querin, and member of “Inflammatory Myopathies and Innovative Targeted Therapies” team 8 at the Research Centre, headed by Prof. Olivier Benveniste. Following the health crisis, the activity of the platform was quickly reorganized: patient inclusions and protocol start-ups were postponed. An investigation aid was then set up for the CORIMMUNO-19 trial, which assesses the benefit / risk ratio of various treatments on a cohort of patients hospitalized for SARS-CoV-2 infection. About twenty volunteers from the institute, doctors, research directors, engineers, PhD students, joined the clinical researchers, partially reassigned to manage the emergency. Read more

Dr Guillaume Bassez: COVID-19 and clinics Interview with Guillaume Bassez, research professor and neurologist at the Institute of Myology’s Service of Neuro-Myology about the complete review of the organization of the service and the implementation as a priority of a continuity of care procedure for patients at high cardiac and respiratory risks. Read more

Prof. Marcela Gargiulo: COVID-19 and psychological counselling Interview with Prof. Marcela Gargiulo, clinical psychologist. She undertakes consultations, research and teaching in the area of neuromuscular diseases. Her team, in synergy with the doctors at the Institute of Myology, has implemented new remote consultation measures to respond to the COVID-19 health crisis. Patients or their families have therefore been reassured, supported or redirected according to the situation faced, with each situation being so unique. Read more

Our latest news
Study of grip strength in patients with DMD – Interview with J.-Y. Hogrel The team at the Neuromuscular Physiology Laboratory of the Institute of Myology participated with, in particular, clinicians from I-Motion, in a study intended to assess grip strength in patients with DMD, using Myogrip, a high-precision dynamometer to assess grip strength. Read more

Proof of concept of a plasmapheresis specifically filtering AAVs Regularly exposed to adeno-associated viruses (AAV), the human population can develop neutralizing antibodies against these AAVs whose presence, even in small quantities, is a factor limiting the effectiveness of a gene therapy using AAVs as a vector. Read more

DMD: a team from the Institute is developing a combined classic exon skipping–gene therapy approach An optimised exon skipping strategy combining antisense oligonucleotides and gene therapy with an AAV, improves survival and the respiratory, cardiac and muscle state of mice modelling severe Duchenne muscular dystrophy. Read more

MyoMiner: explore gene co-expression in normal and pathological muscle These co-expression analyses will help investigators to delineate the tissue-, cell-, and pathology-specific elements of muscle protein interactions, cell signaling and gene regulation. Read more

Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis Oedema of the limbs is uncommon in idiopathic inflammatory myopathies (IIM). The few reported cases have been associated with severe and refractory dermatomyositis (DM), sometimes in association with cancers. Read more

Lamin mutations cause increased YAP nuclear entry into muscle stem cells Mutations in the LMNA gene, encoding the nuclear envelope A-type lamins, are responsible for muscular dystrophies, the most severe form being the LMNA-related congenital muscular dystrophy (L-CMD), with severe defects in myonucleus integrity. Read more

Psychosocial impact of predictive genetic testing in hereditary heart diseases: the PREDICT study Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. Read more

Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from FILNEMUS In the context of the Covid-19 epidemic, the clinicians of the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS), which includes clinicians from the Institute of Myology, established guidelines in order to standardize the management of neuromuscular diseases of patients in France. Read more

Guidelines on clinical presentation and management of non-dystrophic myotonias The non-dystrophic myotonias (NDMs) are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Read more

Hutchinson-Gilford progeria syndrome: rejuvenating old drugs to fight accelerated ageing What if the next generation of successful treatments was hidden in the current pharmacopoeia? Identifying new indications for existing drugs, also called the drug repurposing or drug rediscovery process, is a highly efficient and low-cost strategy. Read more

More breaking news
Two Cochrane reviews conclude that nusinersen is effective in SMA type I and II Dutch and American resarchers have published an update to October 2018 of two Cochrane reviews concerning clinical trials of treatments able to stop or slow the progression of SMA type I, II or III. Read more

Alpha-dystroglycanopathies and neuromuscular junction disorders: a frequent but differentiated association Limb Girdle Muscular Dystrophies (LGMD) and myasthenic syndromes form basically two distinct groups of neuromuscular pathologies. The first result in a more or less progressive deficit of the pelvic and shoulder girdles while the second cause ocular and bulbar symptomatology, with or without fluctuating character. Read more

Spinal muscular atrophy
Duchenne muscular Dystrophy
Myasthenia gravis
Charcot-Marie-Tooth disease
Other neuromuscular diseases
In brief
In memory of Jon A Wolff It is with great sorrow that we share the sad news of the death of a great researcher, a pioneer of gene therapy and a fellow traveler of the AFM-Telethon. Jon A Wolff died on April 17, 2020 of esophageal cancer, the first signs of which he had detected during a visit to France 18 months earlier. Read more

International recommendations for cardiological management in DM1 and DM2 An international consortium of clinicians and researchers developed recommendations for cardiologists having to follow and treat this type of patient. Read more

Next ERN EURO-NMD webinars: 25 June and 23 July 2020 On 25 June, Robert-Yves Carlier (University Hospital Raymond-Poincaré APHP, France) webinar will focus on Pediatric Muscle Imaging, and on 23 July, Olivier Scheidegger (Bern University Hospital/University of Bern, Switzerland) will deliver an Introduction to MR Neurography. Read more

Job opportunity The Institute of Myology is recruiting a Helpdesk Assistant (M/F). Read more

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Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientifics news, medical, political and community about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.
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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