Newsletter #98 – November 2023

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	Newsletter #98 – November 2023

MYOLOGY 2024 - Final deadline for submission of abstracts: 30 November The website for the 8th edition of the international congress dedicated to neuromuscular science MYOLOGY 2024, to be held in Paris from 22 to 25 April 2024, is now open. > Abstracts can be submitted on the website until midnight on Thursday 30 November 2023. > Submit an abstract > Registration is also open at the “early bird” rate until 31 December 2023. > Register > Further details on MYOLOGY 2024
News from the Institute
12th French Pompe Disease Day on November 9 at the Institute The Institute of Myology hosted the 12th French Pompe Disease Day, which brought together doctors, researchers and patient representatives to share the latest advances in research and knowledge. Read more
Institute researchers at the 4th International Imaging in Neuromuscular Disease Conference The main themes selected for the 2023 edition are: emerging imaging approaches, other imaging modalities, dynamic imaging and clinical research. Read more
22nd meeting of the French network of “Emery-Dreifuss muscular dystrophies and other nuclear envelope pathologies” on November 10 This one-day event will cover the various aspects of this group of disorders, from fundamental to clinical and therapeutic aspects. It is designed to encourage the exchange of different experiences relating to this theme. Read more
Our current scientific and clinical news
Mariko Okubo awarded at the WMS for the discovery of a potential new role for lamins Mariko Okubo, Pediatric Neurologist, was awarded the Léa Rose Prize at the WMS annual conference (3-7 October 2023 in Charleston, USA) for her work on gene therapy in laminopathies. Interview with Mariko Okubo, Anne Bertrand and Gisèle Bonne (« Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology » team. Read more
Louise Benarroch wins Elsevier Runner Up Award at WMS 2023 Louise Benarroch is a post-doctoral researcher. Her latest work on the characterisation of a cellular model for muscle diseases was recently published, and was also presented at the 28th International Congress of the World Muscle Society (WMS, 3-7 October 2023 in Charleston, USA), where it was awarded the Elsevier Runner Up Prize. Interview with Louise Benarroch. Read more
The expertise of the NMR laboratory used to monitor the growth of a patient’s heart Benjamin Marty and Yves Fromes just published an article describing the longitudinal muscular (skeletal and cardiac) exploration of a patient with hypopituitary dwarfism treated by gradual hormone replacement in adulthood. Interview with Benjamin Marty. Read more
Right heart involvement in DMD is a poor prognostic factor A study of the respiratory and systolic functions of the right ventricle on Doppler echo in 90 young men with Duchenne muscular dystrophy (DMD), with a median age of 27.5 years and a median vital capacity of 10% of theoretical. Read more
First clinical results of a gene therapy for the treatment of FKRP-related LGMD The initial results of the ATA-100 gene therapy clinical trial for the treatment of limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9) were presented at the ESGCT congress in Brussels on 27 October. Read more
Biology of T cells in neuromuscular diseases: the case of DMD and ALS This review, involving researchers from the Institute of Myology and its partner FIOCRUZ in Brazil, aims to analyse this phenomenon more closely in Duchenne muscular dystrophy (DMD) and amyotrophic lateral sclerosis (ALS). Read more
An overview of the management of mitochondrial diseases in Europe To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried out among 220 healthcare professionals in 31 European countries. Its findings highlight persistent difficulties. Read more
The French experience of intolerance to ERT in certain patients with Pompe disease Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of this myopathy, which includes clinicians from the Institut de Myologie, has compiled documented cases of intolerance to ERT using data from the French Pompe disease register. Read more
Myotubular muscular dystrophy: trial results show efficacy on respiratory and motor function, but challenges remain The results demonstrate a major therapeutic effect on the acquisition of motor and respiratory functions in children with MTM. After treatment, 16 of the 24 children treated were able to breathe without assistance, 20 to sit up, 12 to stand and 8 to walk without support. Severe side effects observed in 4 patients are currently under investigation. Read more
Next M&M's – Muscle Monday Seminar M&M’s – Muscle Monday Seminars are organized by the Myology Centre for Research, at the Institute of Myology. They are given by videoconference. In January, Fabio Pinna (Italy) is hosted by Sestina Falcone (BOND Group – Biotherapies for motor neuron disorders (ALS & SMA). Read more
More news on myology
MTM1 gene therapy effective in BIN1-related centronuclear myopathy A team from the IGBMC in Strasbourg published the validation of a new therapeutic strategy involving the overexpression of myotubularin 1 (MTM1) in a BIN1-linked centronuclear mouse model. Read more
NMD in developing countries: increasing genetic data from under-represented populations While most (86%) published genetic data on neuromuscular diseases comes from populations of European ancestry, the majority of affected families live in low- to middle-income countries. Read more
Inflammatory myopathies An unusual case of dermatomyositis with muscle hypertrophy and neuromyotonia Tofacitinib effective on dermatomyositis skin lesions, but not really on muscle Camptocormia and a dropped head are poor prognostic factors in certain forms of myositis Clear mitochondrial abnormalities and dermatomyositis: a case report A comparative study of the extra-muscular manifestations of anti-synthetase syndrome and dermatomyositis Myositis patients prefer subcutaneous Ig at home to intravenous infusions in hospital The development of arimoclomol stops in inclusion myositis IV immunoglobulins are particularly effective against the cutaneous signs of dermatomyositis
Duchenne muscular dystrophy DMD: the EMA’s CHMP has ruled against the marketing authorisation and the renewal of the conditional marketing authorisation for translarna DMD and newborn screening: results of a two-year American pilot programme How scoliosis and scoliosis surgery affect lifespan in DMD Study of the cardiac fibroblast phenotype derived from IPS stem cells from patients with DMD DMD: Canadian respiratory data in real life A study of drug management of neurobehavioural disorders in DMD Vamorolone (Agamree®) authorised in the USA for DMD from the age of 2; a decision expected in Europe soon Mixed efficacy results for SRP-9001 (Elevidys), a gene therapy approved in the USA for DMD
Myasthenia gravis Characteristics of and response to treatment for double seronegative myasthenia gravis Infantile myasthenia remains ocular and usually evolves favourably When smartphones and AI combine to assess myasthenia gravis in real life Significant drug iatrogenicity in late myasthenia gravis Three studies establish links between intestinal microbiota and myasthenia gravis Efgartigimod active on different muscle groups in myasthenia gravis
Myotonic dystrophies A simple algorithm for predicting respiratory impairment in myotonic dystrophies Japanese study identifies cardiac determinants of sudden death in DM1 Senolytic molecules improve the behaviour of muscle stem cells in DM1 Results of the phase II-III trial of AMO-02 in congenital DM1
Spinal muscular atrophy Biomarkers to monitor treated SMAs The phenotype of patients with SMA carrying 4 copies of the SMN2 gene varies significantly A bone marrow tumour discovered late after treatment with Zolgensma®: case report No correlation between fatigue and severity in SMA?
Charcot-Marie-Tooth disease Results of a survey on pregnancy in CMT disease The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population Poor quality sleep in CMT?
Congenital myopathies Sporadic nemalin myopathy with atypical skin involvement responding to immunoglobulins Myotubular myopathy: in zebrafish, hepato-biliary damage is due to loss of function of myotubularin A natural history of paediatric RYR1-related congenital myopathies
Congenital muscular dystrophy Description of a Dutch cohort of patients with LAMA2-related muscular dystrophy Description of an Iranian cohort of patients with megaconium myopathy
Muscular channelopathy Muscle imaging can show lesions in periodic paralysis Hypokalemic periodic paralysis may present as progressive muscle weakness with or without episodes of periodic paralysis
Muscular glycogenosis Sugar before exercise, but not after the second breath in McArdle’s disease Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
Several muscular diseases New tools for assessing the follow-up of two forms of muscular dystrophy Study identifies key criteria for optimum wheelchair adjustment
Basic research and other disorders Challenges facing people with primary mitochondrial myopathy FSHD: searching for the ideal biomarker A founder effect identified in South Indian patients with beta-sarcoglycanopathy Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging Russian success with tofacitinib in FOP Congenital myasthenic syndromes are common in India A very high risk of cardiac complications in Emery-Dreifuss muscular dystrophy Successful heart transplant in a child with congenital titinopathy A large series of patients with VCP gene-related myopathy studied with muscle imaging The French Cannemuss study confirms the efficacy of anti-Covid-19 messenger RNA vaccines in cases of amyotrophy French study highlights neurotoxicity of immune checkpoint inhibitors US recommendations on the use of immunoglobulins in MNM Metformin may have a protective effect on statin muscle toxicity When artificial intelligence helps analyse walking disorders
Other news
SAVE THE DATE 20-24 Feb 2024 - 7th EURO-NMD Annual Meeting - Paris, France - Read more
14-16 Mar 2024 - 4th International Congress on Spinal Muscular Atrophy - Ghent, Belgium - Read more
9-13 Apr 2024 - IDMC-14 - Nijmegen, Netherlands - Read more
29 June 2024 - 2 Juillet 2024 - 10th Congress of the European Academy of Neurology - Helsinki, Finland - Read more
DOCUMENTATION Advances in congenital myopathies Read more
EURO-NMD WEBINARS Upcoming EURO-NMD webinars will take place on 4 Jan. 2024 : Dr. Jens Reimann (Germany) "Cognitive symptoms in myopathies" ; on 11 Jan. : Dr. Maxwell Damian (UK) "Respiratory insufficiency in Neuromuscular Diseases" ; on 18 Jan : Prof. Antonio Toscano (Italie) "Rhabdomyolysis" ; le 25 janvier : Prof Bjarne Udd (Finlande) - 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.