Newsletter #75

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	Newsletter #75

Telethon 2019: let us multiply victories Welcome to the latest issue of our newsletter! This year, the popular French actor, film director, screenwriter and producer Jean-Paul Rouve will be the ambassador of the Telethon. Join us on December 6 and 7, live on France Télévisions channels and everywhere in France. A Telethon under the banner of victories. The revolution of gene therapy is there! This medical revolution arose from the determination of families, the proactive strategy of an association of patients, the excellence of researchers and laboratory experts such as the Institute of Myology … as well as the mobilization and loyalty of volunteers, partners and Telethon donors without whom nothing would have been possible! Overcoming diseases hitherto considered incurable is now possible. The first drugs are there. Now, for all those who are still waiting for treatment, these victories must be multiplied! Further details ont the Telethon 2019
At the Institute
Odile Boespflug-Tanguy, the Head of I-Motion: strengthening the links between preclinical research, clinical research and care Odile Boespflug-Tanguy, a paediatric neurologist at the Robert Debré Hospital, has just become head of the I-Motion Institute, in addition to her position as president of the AFM-Téléthon Scientific Advisory Board. Read more
7th edition of the operation “1000 researchers in schools in France and abroad” The experts of the Institute of Myology are mobilizing again this year to go to colleges and high schools in France and abroad, to share their passion for research and to discover the reality of their daily life. Read more
Science Fair at the Institute - October 11, 12 and 13 As part of this celebration, on October 11, donors are invited to visit laboratories. On October 12 & 13, workshops will be offered to all audiences at the Sorbonne University Science Village on the Jussieu campus. The experts of the institute will discover the amazing secrets of the muscle around different experiences. Read more
Our latest news
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice Antisense oligonucleotides (ASOs) targeting pathologic RNAs have shown promising therapeutic corrections for many genetic diseases including myotonic dystrophy (DM1). Read more
Emery-Dreifuss muscular dystrophy: focal point nuclear envelope Emery-Dreifuss muscular dystrophy is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Read more
Gene Therapy for ALS-A Perspective Amyotrophic lateral sclerosis is a fatal motor neuron disease with no cure. Recent advances in gene therapy open a new perspective to treat this disorder-particularly for the characterized genetic forms. Read more
Scapular dyskinesis in DM1: clinical characteristics and genetic investigations The researchers have just published encouraging results on the mouse for this neuromuscular disease. They are now working on developing this approach in the perspective of a clinical trial. Read more
Natural history of LGMD type R9 over 6 years: searching for trial endpoints An international consortium of researchers reports the long-awaited results of a six-year natural history of FKRP-linked LGM R9 in 26 adult patients who had previously participated in a shorter natural history study (over one year). Read more
Dysregulation of circular RNAs in DM1 Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. Read more
Diaphragm sniff ultrasound: normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders A significant number of neuromuscular diseases induce respiratory problems, mainly due to a deficit of muscles responsible for ensuring an effective ventilation. Among these muscles, the diaphragm, a kind of bellows located between the abdomen and the thorax. Read more
More breaking news
AVXS-101 for SMA1: comparative study with a prospective natural history cohort Zolgensma®, a gene replacement therapy product, received a marketing authorization on May 24 for the treatment of proximal spinal muscular atrophy (SMA) in the US. Read more
Nocebo effect in myasthenia gravis: systematic review and meta-analysis of placebo-controlled clinical trials Nocebo refers to the adverse events (AEs) experienced when taking a placebo drug and is believed to be a centrally mediated process. Read more
Duchenne muscular dystrophy Unraveling upper extremity performance in DMD: a biophysical model Observational study of clinical outcomes for testosterone treatment of pubertal delay in DMD Vamorolone trial in DMD shows dose-related improvement of muscle function
Spinal muscular atrophy Nusinersen in later-onset SMA: long-term results from the phase 1/2 studies Salbutamol tolerability and efficacy in patients with SMA type II
Charcot-Marie-Tooth disease Foot Function Index: a promising questionnaire for individuals with Charcot-Marie-Tooth disease type 1A Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X Novel mutation in MARS in a patient with CMT, axonal, type 2U with congenital onset
Limb-girdle muscular dystrophy A new family with transportinopathy: increased clinical heterogeneity Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
Inflammatory myopathies Mitochondrial dysfunction and role of harakiri in the pathogenesis of myositis Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial Radiographic patterns of muscle involvement in the idiopathic inflammatory myopathies
Basic research and other disorders AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test Gene therapy for Pompe disease: the time is now Acceleron abandons the development of ACE-083 in the treatment of FSHD
In brief
ERN EURO-NMD webinars - October to December 2019 ERN EURO-NMD organize webinars from 14:00 to 15:00 dealing with different specialized areas related to the neuromuscular domain. Upcoming dates: "Diagnostic imaging in NMD: the basics" on 24 October, "Myotonic dystrophies" on 21 November, "Mitochondrial Donation" on 28 November and "Classification of inflammatory myopathies" on 5 December. Read more
30th International Symposium on ALS/MND - December 4-6, 2019 - Perth, Australie This symposium is organized each year by the Motor Neurone Disease Association. This edition will take place in Perth in Australia from 4th to 6th December. Read more
6th TREAT-NMD International Conference - December 9-11, 2019 - Leiden, The Netherlands The aim of this conference is to share progress and lessons learned from the field of translational medicine in hereditary neuromuscular diseases and to plan the provision of future treatments for patients. Read more
EURO-NMD 3rd Annual Meeting - November 6-8, 2019 - Ferrara, Italy Registration is now open for the annual meeting of the European Reference Network for Rare Neuromuscular Diseases Euro-NMD which will be held in Ferrara, Italy, from November 6th to 8th. Read more
Job opportunity A position for a research associate is available in the research group of Maria Grazia Biferi at the Center of Research in Myology of the Institute of Myology. Read more

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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; Lawrence Chambers. 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