Newsletter #97 – September 2023

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	Newsletter #97 – September 2023

Get ready for Telethon 2023 on 8 & 9 December! After Matt Pokora, Soprano and Kev Adams, it’s singer and composer Vianney’s turn to join forces with researchers, families and thousands of volunteers across France in the fight against rare diseases on 8 and 9 December 2023. The ambassador families for the next Telethon reflect the victories won thanks to you, against diseases that were once incurable, and the hope of finding treatments for those who have none. Ibrahima, aged 2, suffers from spinal muscular atrophy, yet he walks like all children his age, using a gene therapy drug administered 5 weeks after birth, even before the first symptoms appeared. Kelly, 15, is smiling because this therapeutic revolution is proving effective for her condition. For Léon, aged 9, and Tony, father of Ivy, aged 4, the situation is urgent. The urgency to put a name to their disease, the urgency to find treatments for these diseases that are evolving every day. Save the date! Join us on 8 and 9 December on France Télévisions and throughout France and abroad for the Telethon 2023! > Find out more about the Téléthon 2023 (in French)
News from the Institute
Our Annual Report 2022 is online 2022 was a particularly eventful year, with the development of strategic cross-functional projects, the creation of a team to accelerate our digital transformation, the strengthening of our quality tools, and growth in our activities, particularly in adult clinical trials. Finally, a major step was taken in the deployment of our Foundation ambition, with the signing of the sale commitment for the acquisition of a plot of land and the selection of the architect for our future building. Read more
The 2023 edition of the “1000 researchers in schools” operation The 2023 edition of the “1000 researchers in schools” operation will run from 6 November to 8 December. Read more
"Fête de la Science" from 9 to 16 October This year’s "Fête de la Science" will take place from 9 to 16 October in France. Read more
Our current scientific and clinical news
Identification of a new form of congenital myasthenic syndrome – Interview with M. Masingue and S. Bauché The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has just been published. The article connects the varied clinical manifestations of the disease with the signalling pathways involved at the neuromuscular junction (NMJ) disrupted by the gene mutation. Read more
Molecular characterisation of SMA not linked to chromosome 5q remains imperfect A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in the SMN1 gene (non-5q SMA). Read more
Institute researchers at the Ottawa NMD 2023 conference Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Read more
The Neuropathies Rehabilitation Summer School Clinicians and researchers from the Institute have given lectures at the Neuropathies rehabilitation summer school in Rome, from 18 to 21 September 2023. 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 guest is Johan Auwerx (Switzerland) on November 20. Read more
More news on myology
Conclusions of a long-term follow-up study in infantile Pompe disease A French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020. Read more
Towards standardised assessment of bulbar function in SMA With the advent of innovative therapies for SMA, the issue of bulbar disorders is becoming increasingly important. An international consortium of specialists has drawn up recommendations for standardised assessment of these impairments. Read more
Spinal muscular atrophy Bulbar involvement improved with Zolgensma in type I SMA Two cases of necrotising enterocolitis in infants with SMA treated with gene therapy A case of intracranial hypertension in an adult with SMA treated with nusinersen Good tolerability of Spinraza® 28 mg in SMA Extension of the indication for Evrysdi now authorised from birth in Europe Improved diaphragmatic impairment in nusinersen-treated SMA Heterozygote screening techniques are almost equally effective in SMA Efficacy of leuprorelin combined with robotic exoskeleton-assisted rehabilitation in Kennedy disease: a case report Retinal damage in ALS and Kennedy disease
Myasthenia gravis The results of three phase III trials in myasthenia gravis have been published! Treat ocular myasthenia with or without immunosuppressive therapy? Covid-19: retrospective arguments in favour of priority protection for myasthenia gravis patients Management of myasthenia gravis: still room for improvement Myasthenia gravis and innovative therapies: a study provides a critical overview of the data in the literature Facial recognition to help assess myasthenia gravis patients Infantile myasthenia remains ocular and usually evolves favourably
Charcot-Marie-Tooth disease A questionnaire on the use of medical cannabis in CMT A congress organised by the European Federation of CMT Associations Review of the literature on drugs not recommended for CMT Publication of two major natural history studies in CMT X1 Several drug candidates for giant axon neuropathy Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
Inflammatory myopathies Mixed results of exercise-associated testosterone in inclusion body myositis Measuring type 1 interferon activation: the Lyon experience Anti-CD19 CAR-T cells effective in refractory anti-Jo1 antisynthetase syndrome: two German experiments Towards a better assessment of calcinosis associated with certain cases of dermatomyositis The presence of fever increases the risk of serious respiratory complications in inflammatory myopathies
Pompe disease Limiting the post-gene therapy immune response in Pompe disease The French Pompe disease registry turns 18 Initial results on the safety of home enzyme replacement therapy in Pompe disease Pompe disease in children: nerve damage impairs functional motor prognosis
Duchenne muscular dystrophy DMD: swallowing-related quality of life deteriorates over time DMD: positive results from Viltolarsen confirmed over four years
Fibrodysplasia ossificans progressiva No European marketing authorisation for palovarotene (Sohonos®) Multifocal heterotopic ossification in a man with LMP-1 variants in his germ cells
Basic research and other disorders A flexible helical foot lift brace that is more effective and better accepted than the traditional posterior splint A broader phenotypic spectrum in myopathies linked to the TANGO2 gene Newborn screening for primary carnitine deficiency can also detect mothers with few symptoms Protective effect of metformin on fibroblasts with GNE myopathy by restoring autophagic flux The value of assessing sarcopenia in paediatric patients with neurological pathology A founder effect in limb-girdle muscular dystrophy linked to the TRAPPC11 gene Defects in the FILIP1 gene lead to a new form of congenital myopathy associated with facial and cerebral anomalies Congenital myopathy with rhabdomyolysis extends the phenotypic spectrum of DNMT3 gene mutations Is there a correlation between cerebral and muscular phenotypes in congenital muscular dystrophy linked to the LAMA2 gene? Are muscle imaging techniques for FSH equivalent? Primary mitochondrial myopathies: elamipretide is well tolerated but does not improve the 6-minute walk test or fatigue
Other news
A history of myology in Europe - Read more
7 September is International Duchenne Muscular Dystrophy Awareness Day - Read more
International Myotonic Dystrophy Awareness Day on September 15 - Read more
SAVE THE DATE 3-4 October - RARE 2023 - Paris, France - Read more
3-7 October - WMS 2023 - Charleston, USA - Read more
5-8 November - MYO-MRI - Berlin, Germany - Read more
DOCUMENTATION Advances in Duchenne muscular dystrophy and Becker muscular dystrophy - Read more
EURO-NMD WEBINARS Upcoming EURO-NMD webinars will take place on 4 October : Dr. Stefano Carlo Previtali "Pathomechanisms of Charcot-Marie-Tooth", on 12 October : Dr. Davide Pareyson "Treatment of Charcot-Marie-Tooth", on 19 October : Prof. Dr. Kleopas A. Kleopa "Gene Therapy", on 26 October : Prof. Dr. Shahram Attarian "Diagnosis of Charcot-Marie-Tooth Disease", on 9 November : Prof. Dr. Joachim Weis "Pathology of Peripheral Nerves" - 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. © 2023 - 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.