Newsletter #93

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	Newsletter #93

On 2 and 3 December, Kev Adams will be the ambassador of the Telethon 2022. The French comedian and actor is committed to working alongside the ambassador families around Lucie, Benjamin and Lou and the researchers, families and thousands of volunteers mobilised throughout France and abroad in the fight against rare diseases. Faced with incurable diseases that were destroying the lives of their children, the parents of the AFM-Telethon took up unprecedented challenges in scientific and medical research. Because they did not give up, and chose genetics and then gene therapy, when few believed in them, diseases that were once unknown are now diseases that have been overcome. A true revolution in medicine is underway, changing the lives of patients. But because 95% of rare diseases remain untreated, it is more necessary than ever to continue to innovate, to multiply the victories. For all those who are waiting for a treatment, we must continue to fight and not give up!
At the institute
The work of two researchers from the Institute awarded at the WMS Harmen Reyngoult, co-team leader of NMR Laboratory – Spectroscopy Laboratory and Amélie Vergnol, PhD student in the Gene Therapy for DMD & Skeletal Muscle Pathophysiology Group received the Elsevier Subscription Prize at the WMS 2022. Read more
10th edition of the “1000 researchers in schools” campaign – 7 Nov-3 Dec The scientific information campaign for secondary school students "1000 researchers in schools in France and abroad" is celebrating its 10th anniversary! The Institute's researchers, who are very involved in the operation, allow students to learn about the latest advances in biomedical research, gene therapy, stem cells, etc., and the daily life of a researcher. Read more
Our latest news
A tool to evaluate cardiac risk in patients with mitochondrial disease Interview with Prof. Karim Wahbi, cardiologist, who has just published the results of an international study that he coordinated with his “Registries and databases” team at the Institute. The paper focuses on predicting cardiac complications in adult patients with mitochondrial diseases. Read more
Characterisation of PABPN1 aggregates in OPMD Interview with Capucine Trollet who, with Vincent Mouly, led an international study on the characterisation of PABPN1 aggregates in a unique series of 90 muscle biopsies from DMOP patients and in a xenograft model. Read more
Developing allele-specific versatile siRNAs that can silence all dominant mutations in dynamin 2 After providing proof of concept of an allele-specific RNA interference therapy aimed at silencing the mutated mRNA without affecting the normal allele, and demonstrating the long-term maintenance of the therapeutic efficacy of this approach in a mouse model and in patient-derived cells, researchers from the institute have developed versatile interfering RNAs (siRNAs) that can be used regardless of the mutation. Read more
The value of myostatin measurement in the follow-up of inflammatory myopathies Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in Paris have investigated the hypothesis that the determination of myostatin, a muscle growth inhibitory factor, may be useful in this context. Read more
The concept of ‘actionable’ genes applied to myopathies A gene responsible for a given disease is said to be ‘actionable’ if it has direct or indirect therapeutic applications. This new concept in the genomic approach to hereditary diseases is of obvious interest to the patients themselves. A consortium of French geneticists sponsored by the FILNEMUS network has seized on the concept by applying it to myopathies. Read more
The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion contributed, involved 34 children under 4 years of age with X-linked myotubular myopathy on respiratory support. Read more
ACTA1 gene-related nemaline myopathies: an international study to clarify phenotypes Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated by the Institute of Myology of Paris collected data on ten new cases of this myopathy. Read more
Restoration of dystrophin after AAV U7-mediated Dmd exon skipping is modulated by muscle exercise in the mouse model of severe DMD A team of French researchers, involving researchers from the Institute, showed in a mouse model of severe DMD that voluntary exercise has an impact on a Dmd exon skipping approach and on muscle physiology. Read more
Moxifloxacin, an antibiotic of interest in SMA An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. This quinolone antibiotic was administered daily subcutaneously to mouse models of SMA. Read more
Upcoming Monday Muscle Seminars M&M's Upcoming Monday Muscle Seminars M&M's organized by the Myology Centre for Research: Monday November 21st, 14:00 - Sustaining Power: Building Energy Networks in Striated Muscle par Brian Glancy and Monday November 28th, 12:00 - Desmin intermediate filament loss promotes muscle wasting during aging or disease par Shenhav Cohen. Read more
More breaking news
FKRP Limb-girdle muscular dystrophy : first patient treated in the European gene therapy clinical trial The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9). This is a major step, the result of 30 years of excellence in research led by Isabelle Richard, head of the Progressive Muscular Dystrophies team at Genethon. Read more
A new mutation mechanism in SMA A few very rare cases of SMN1-related proximal spinal muscular atrophy (SMA) are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation in a 50 year old patient with type III SMA. Read more
Pregnancy in a woman with myasthenia gravis, a risky situation A Canadian team used a US database (Healthcare cost and utilization project, nationwide inpatient sample - HCUP-NIS) to conduct a retrospective cohort study (2005 - 2015) of nearly 10 million deliveries, including 974 of women with autoimmune myasthenia. Read more
Duchenne & Becker muscular dystrophies Longitudinal cardio-MRI follow-up shows early myocardial damage in DMD Early lessons from newborn mass screening for DMD in Taiwan Investigate and manage pain in DMD at any age What alternative to face-to-face rehabilitation in DMD? A review of the literature compares prednisone and deflazacort in DMD and favours the latter in the short term, while in the long term their effects are similar DMB: cognitive and behavioral disorders better characterized Brain dystrophin restoration improves memory in mdx mice DMD: positive results of Viltolarsen confirmed over two years How American families affected by Duchenne or Becker muscular dystrophy feel about newborn screening
Spinal muscular atrophy Results of a Cure SMA survey on patient participation in clinical trials Results of the SPR1NT trial: Zolgensma under study in presymptomatic A rare but formidable complication of gene therapy in SMA Feedback from gene therapy in children with SMA over 8.5 kg A more effective response to Zolgensma® in patients with poor response to Spinraza®? A first positive assessment of intrathecal injections of nusinersen in children Three years of newborn screening for SMA in New York Publication of the results of the phase II trial of amifampridine in SMA Early-onset SMA: a German real-life study of children treated with nusinersen A new type of complication related to SMA gene therapy Low levels of anti-AAV9 and not age-dependent in adults with SMA A South Korean natural history study of Kennedy syndrome A non-Kennedy SBMA linked to the UBA1 gene
Inflammatory myopathies Different gut microbiota in dermatomyositis, especially with associated lung disease Myositis is very often accompanied by the use of painkillers What impact do swallowing disorders have on the survival of patients with inflammatory myopathy? Asian mushroom supplements cause autoimmune necrotizing myopathy outbreak One in five adults with dermatomyositis discontinues immunomodulators at a median of three years Myositis with interstitial lung disease: arguments to better consider lung transplantation How to treat hypercholesterolemia in the context of Immune-mediated necrotizing myopathy? Atypical forms of inclusion myositis are not so exceptional
Myasthenia gravis The predisposition to myasthenia gravis is becoming better known Batoclimab successfully completes Phase II in myasthenia gravis A new tool for the follow-up of myasthenia gravis in teleconsultation A new biomarker for autoimmune muscle rippling Rituximab is proving to be an effective background treatment for MG, including in children
Congenital myopathies Late-onset sporadic nemaline myopathy: of the importance of α-actinin immunostaining and of the efficacy of corticosteroids combined with an immunosuppressant Central core disease: facial involvement makes the difference RYR1 mutations are also involved in a mild form of tubular aggregate myopathy Myotubular myopathy: valproic acid improves mouse models and leads to the identification of a specific epigenetic signature
Mitochondrial myopathies An atypical presentation of MELAS syndrome A new lead in the treatment of MELAS syndrome A natural history study to better understand certain myopathies of mitochondrial origin
Metabolic myopathies The phenotypic spectrum of an ultra-rare form of muscle glycogenosis is widening Diaphragm involvement in Pompe disease more clearly visualized on imaging McArdle: clinical trial proves benefits of exercise
Charcot-Marie-Tooth disease Ultrasound nerve imaging may be useful in CMT The first French series of patients with HINT1 neuropathy suggests a wider phenotypic and genotypic range Should carpal tunnel or cubital tunnel syndrome in CMT 1A and HNPP neuropathy be operated on?
Myotonic dystrophies DM1: an oligonucleotide administered in the brain of model mice DM2: targeting mechanisms disrupted by marketed molecules A broad natural history study in myotonic dystrophies
Limb-girdle muscular dystrophies hiPSCs as a cellular model applicable to several LGMDs Identification of sensitive outcome measures / evaluation tools for clinical trials in LGMDR12 First clinical and genetic description of a large cohort of patients with sarcoglycanopathy in India
Fibrodysplasia ossificans progressiva Start of saracatinib trial in myositis ossificans FOP: a tendency for palovarotene to be effective FOP: the day-to-day burden of the disease
Facioscapulohumeral myopathy A functional scale to assess facial muscle involvement in FSH A new imaging tool to assess FSH
Congenital muscular dystrophy US team shows feasibility of gene therapy in mice for CMD 1D A novel method to treat recurrent pneumothorax in Ullrich myopathy
Basic research and other disorders A first case, adult and without rhabdomylolysis, of myopathy linked to the MLIP gene Recessive forms of desminopathy remain exceptional and very serious Inhibiting the proteasome to treat OPMD A new technology to identify pathological variants of the titin gene The value of salbutamol in a form of CMS A majority of patients with neuromuscular disease are comfortable with telemedicine, but half prefer face-to-face consultations The first Japanese case of myopathy linked to the myoglobin gene Start of saracatinib trial in myositis ossificans The safety data for Covid-19 vaccines are reassuring at this stage in myositis and myasthenia A comparative study of two muscle biopsy techniques A family observation of primary dysferlinopathy, an autosomal dominant genetic disorder Dutch team confirms the importance of cardiorespiratory monitoring in patients with SEPN1- and LAMA2-related myopathies
In brief
2023 Advances in Skeletal Muscle Biology In Health and Disease Conference - March 15th-17th, 2023 - Florida, USA Registration is now open for this conference. Read more
Upcoming webinar organized by EURO-NMD Upcoming webinar organized by the European network EURO-NMD : December 22nd, 2022 - Prof. Marianne de Visser, Dysphagia in Neuromuscular Diseases. And January 26th, 2023 - Prof. Kristl Claeys, Proximal weakness. Read more
Symposium 2022 – The Gene Therapy Revolution Underway: The Latest Advances – November 16th, 2022, Paris The GTRU 2022, an international scientific symposium dedicated to the advances and challenges of gene therapy, was held on Wednesday 16 November 2022. This event entitled "The Gene Therapy Revolution Underway: The Latest Advances" is organised by the DIM Thérapie Génique, of which Vincent Mouly is a member. Read more
4th Neuromuscular Translational School, Nov. 21st-25th - Leiden, The Netherlands This session of the Neuromuscular Translational School aims to educate clinicians and researchers working in the field of MNM on aspects relevant to the development of translational therapies, as well as to describe and demonstrate how networks such as EURO-NMD and TREAT-NMD facilitate the development of therapies. Read more
30 September: International Muscular Dystrophy Awareness Day Organised by the LGMD Awareness Foundation, the aim of this day is to draw attention each year to this group of rare neuromuscular diseases that impact on the lives of many people, children and adults, in all regions of the world. Read more
September 15: International Myotonic Dystrophy Awareness Day September 15, 2022 marks the second International Myotonic Dystrophy Awareness Day, which aims to highlight these rare diseases in order to improve diagnosis, care and support, as well as to advance research. Read more
World Duchenne Awareness Day: women speak out September 7th is World Duchenne Muscular Dystrophy Awareness Day. To talk about it, this year, the theme chosen for the Awareness Day is “Women and Duchenne Muscular Dystrophy”. Read more
Job opportunities The MCR of the Institute of Myology offers a post-doc position. The European Reference Network (ERN) EURO-NMD is looking for a Project Manager (M/F) and an Assistant Project (M/F). Read more

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Legal This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Fabrice Chrétien; Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Do you have any questions? Would you like to share some news? Please contact us. © 2022 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.