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Institut de la Myologie


Newsletter #73

2024 Institute of Myology strategic project

Welcome to our 73rd newsletter.

A historic first: on May 24, the Food and Drug Administration approved Zolgensma®, a gene therapy drug for the treatment of spinal muscular atrophy. This is the first gene therapy authorized for a neuromuscular disease.

In France, an agreement was reached between the Biogen laboratory and the French state that allows access to Spinraza®, the first innovative therapeutic medicine offered to patients with spinal muscular atrophy type 1,2 and 3. The hospitals, in fact, will be entirely reimbursed for their costs.

And to that point, on May 28, the World Health Assembly of the World Health Organization was « seriously concerned » with prices of certain drugs and their consequences for patients. It adopted a resolution calling for more transparency on the actual prices of medicines and the determinants of their costs. The AFM-Telethon want concrete steps in this direction.

At the Institute
A strategic project for the Institute of Myology The Institute of Myology was endowed with a strategic project destined to be develop and sustain myology, to raise awareness and for the most part gather attention around the Muscles on the Horizon 2024, the dates of the Olympic games. Interview with Marianne Perreau-Saussine, Secretary General of the Institute. Read more

An international, prospective study on the natural history of X-linked myotubular myopathy Interview with Melanie Annoussamy, the first author of an article published in April in Neurology. The authors designed an international, prospective and longitudinal study of the natural history of patients with X-lined myotubular myopathy. Read more

A day in honor of G. Butler-Browne This day, organized in honor of Gillian Butler-Browne for her official retirement, brought together eminent scientists from around the world, who are also some of her close friends. Read more

Our latest news
‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies Clinicians and researchers from the Institute of Myology recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients. Read more

Rituximab in the treatment of refractory anti-HMGCR immune-mediated necrotizing myopathy The authors report here their common experience in refractory anti-HMGCR patients, that is those that react very little or not at all to conventional treatment. Read more

High-dimensional single-cell cartography reveals novel skeletal muscle-resident cell populations Using a combined approach of single-cell RNA sequencing and mass cytometry, the researchers precisely mapped 10 different mononuclear cell types in adult mouse muscle. Read more

A large multicenter study of pediatric DM1 for evidence-based management Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Read more

CD8+T-bet+ cells as a predominant biomarker for inclusion body myositis Researchers wanted to deepen understanding of the immune mechanisms involved in inclusion body myositis and identify specific biomarkers. Read more

Phosphoglycerate kinase deficiency: a nationwide multicenter retrospective study This study confirms that PGK deficiency is an extremely rare disorder with a wide phenotypic spectrum, and demonstrates for the first time that PGK deficiency may affect peripheral nervous system and present as a CMT-like disorder. Read more

Congenital myopathies are mainly associated with a mild cardiac phenotype In order to evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes, a team of Danish and French clinicians evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Read more

FSHD1 and FSHD2 form a disease continuum The aim of this national multicenter cohort study was to compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. Read more

Echographic assessment of diaphragmatic function in DMD from childhood to adulthood Clinicians aimed to assess diaphragm ultrasound patterns in DMD, their relationship with age and their association with home mechanical ventilation (HMV). Read more

More breaking news
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy Cyprus researchers, supported by AFM-Telethon, provide a proof of principle for viral gene replacement therapy targeted to Schwann cells to treat CMT4C and potentially other similar demyelinating inherited neuropathies. Read more

Gene therapy: towards a clinical trial for LGMD2C Researchers demonstrated the efficacy of gene therapy and determined the effective dose for treating a rare muscle disease, gamma-sarcoglycanopathy, in mouse models of the disease. Read more

Spinal muscular atrophy
Duchenne muscular dystrophy
Pompe disease
Myasthenia gravis
Limb-girdle muscular dystrophy
Charcot-Marie-Tooth disease
Other disorders
In brief
Translational Summer School 2019 - 1-5 July 2019 - Leiden, The Netherlands ERN EURO-NMD and TREAT-NMD developed for researchers and clinicians interested in translational research. Read more

WMS 2019 - 1-5 October 2019 - Copenhagen, Denmark The 24th WMS annual congress will be held in Copenhagen from 1st to 5th of October. Read more

Imaging in Neuromuscular Disease 2019 - 17-19 November - Berlin, Germany Registration and abstracts submission for this conference are now available on the conference website. Read more

6th TREAT-NMD International Conference - 9-11 December - Leiden, The Netherlands Registration to TREAT-NMD 6th Conference is now open. Read more

Overview of Myology 2019 Myology 2019 showed that we are entering in a new era for neuromuscular diseases, namely the era of therapeutics, whether they be innovative therapies derived from genetics or molecule repositioning. Discover an overview of Myology2019 by Serge Braun, scientific director of AFM-Téléthon. Read more

ERN EURO-NMD webinars Last webinar delivered on April on "Amyloid Neuropathies: update in 2019" is now available on the ERN NEURO-NMD website. Next webinar (24 October) organised by P. Carlier, RY Carlier, O Scheidegger et G. Tasca, will focus on "Diagnostic imaging in NMD: the basics". Read more

Job opportunities The Institute of Myology is recruiting a Pedetrician for I-Motion and a Bioinformatician for its Myology Centre for Research. 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: Marie-Pierre Verrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea; Bertrand Fontaine. Redaction: Anne Berthomier; Dawn C. Haughton. Also participate: Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2019 - AFM - Institut de Myologie. ISSN 1772-9866