Newsletter #73

Check the mail online click here

	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 SMArtCARE – A platform to collect real-life outcome data of patients with SMA Spinal muscular atrophy with respiratory distress type 1: a multicenter retrospective study Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult SMA
Duchenne muscular dystrophy Characterize neurocognitive development disorders in DMD Phase 1 Study of Edasalonexent (CAT-1004) in Pediatric Patients with DMD Long-term evaluation of AAV-CRISPR genome editing for DMD Fractures and linear growth in a nationwide cohort of boys with DMD with and without glucocorticoid treatment: results from the UK NorthStar database
Pompe disease AAV gene transfer with tandem promoter design prevents anti-transgene immunity and provides persistent efficacy in neonate pompe mice Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study NEO1 results : neoGAA treatment is well-tolerated
Myasthenia gravis Eculizumab improves fatigue in refractory generalized myasthenia gravis Pattern of habitual physical exercise in Myasthenia gravis patients Altered gut microbiota in Myasthenia gravis Myasthenia gravis: the beneficial effect of thymectomy up to 5 years
Limb-girdle muscular dystrophy LDMG in the Netherlands: the clinical and molecular spectrum of 244 patients Gene delivery for LGMD2D by isolated limb infusion
Charcot-Marie-Tooth disease Development and validation of the CMT disease infant scale Restoring mitofusin balance prevents axonal degeneration in a CMT2A model
Other disorders Myositis is associated with coronary over-risk in two large studies A large multicenter study of pediatric DM1 for evidence-based management Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure The French National Registry of patients with FSHD Galectin-9 and CXCL10 as biomarkers for disease activity in juvenile dermatomyositis: a longitudinal cohort study and multi-cohort validation Expanding the phenotype of filamin-C-related myofibrillar myopathy Amifampridine phosphate (Firdapse) is effective in a confirmatory phase 3 clinical trial in LEMS Muscle MRI in a large cohort of patients with OPMD Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
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

Newsletter subscription 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.

Also follow our news on social networks

Legal 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