Newsletter #74

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	Newsletter #74

Welcome to the 74th issue of our newsletter! Odile Boesflug-Tanguy, neuropediatrician and researcher, has taken the direction of I-Motion since last July 16 following the departure of Laurent Servais to whom we wish all success and whom we thank for all that he built at l’Institut de Myologie with his team. We also wish Teresa Gidaro all the best as she leaves the institute and warmly thanks her for the work she did in the I-Motion centre for research. Ongoing trials are proceeding and new trials will soon be launched and monitored. Thus, alongside her work as Chair of the Scientific Council of the AFM-Téléthon at the level of basic and preclinical research, Odile Boesflug-Tanguy will be involved in the next step in the process: the trials in patients. Until our next issue in September, we wish you all an enjoyable and safe summer!
At the Institute
“REDs” team 4 from Research Centre in the spotlight at IDMC-12 Three members of Denis Furling's team ("Repeat Expansions & Myotonic Dystrophy") have been rewarded at the 12th International Myotonic Dystrophy Consortium Meeting (IDMC-12) which brings together, every 2 years, leading scientists specialising in myotonic dystrophy from all over the world. Read more
66 participants: all time record for our 2019 Summer School! The 22nd edition of the Summer School of Myology took place from June 17th to 22nd. Every year, the Institute offers the possibility to get trained in Myology thanks to a condensed 6-day course organized in Paris. The course is open to foreign applicants whichever country they come from. There were 66 student representing 26 nationalities, all time record! Read more
Two gene therapy trials underway at I-Motion Of the roughly 20 clinical trials underway at I-Motion, two concern gene therapy, which constitutes one of the preferred approaches to treating genetic diseases: ASPIRO concerns myotubular myopathy, and STR1VE-EU concerns type 1 proximal spinal muscular atrophy linked to SMN1. Read more

SMA gene therapy: it is becoming possible to defeat the disease At a time when the first gene therapy for spinal muscular atrophy has just received US marketing authorisation, the first French children are starting to benefit from this treatment. Next expected stage: marketing authorisation in Europe. Read more
Our latest news
CRISPR-Cas9 : first in vivo proof-of-concept in DM1 Thanks to this genome editing approach, the expanded CTG triplet repeat in the DMPK gene, which is responsible for the disease, was “cut” and removed from the gene, and the number of toxic RNA aggregates was decreased in the muscle cells of the tested models. Read more
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in Laminopathies An accurate estimation of this risk in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Read more
Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation The researchers here have deepened the knowledge on performance in this mouse model of Emery-Dreifuss muscular dystrophy. Read more
Biomarkers in inflammatory myopathies - an expanded definition Biomarkers as parameters of pathophysiological conditions are particularly warranted to inform about diagnostic, prognostic, and therapeutic questions. Read more
Inhibition of myostatin improves muscle atrophy in OPMD In OPMD, this strategy has implications to be used as adjuvant therapies with gene therapy based approaches, or to stabilize the muscle prior to myoblast transplantation. Read more
LRSAM1 variants and founder effect in French families with ataxic form of CMT2 The clinicians aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. They collected clinical, electrophysiological, and laboratory findings and performed genetic analyses. Read more
Causes and Consequences of miR-150-5p Dysregulation in Myasthenia Gravis The researchers showed that the microRNA miR-150-5p, previously described as a biomarker of MG, could play a role in MG both at the thymic level and in periphery by modulating the expression of target genes and peripheral cell survival. Read more
Newborn screening for SMA in Southern Belgium The authors developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Then, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Read more
More breaking news
NFL is a marker of treatment response in children with SMA treated with nusinersen Nusinersen was recently approved for spinal muscular atrophy and the aim of this study was to find a response marker for this treatment. Read more
European regulators’ views on a wearable-derived performance measurement of ambulation for DMD regulatory trials In this article, European regulators provide an update on the recent regulatory consideration of a new endpoint (Stride Velocity 95th Centile (SV95C)) that could be used in therapeutic DMD trials. Read more
Spinal muscular atrophy Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment Evaluating benefit-risk decision-making in SMA: a first-ever study to assess risk tolerance in the SMA patient community Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy
GNE myopathy A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy Open-label phase 2 clinical trial of ManNAc for GNE myopathy
Duchenne muscular dystrophy Priorities when deciding on participation in early-phase gene therapy trials for DMD: a best-worst scaling experiment in caregivers and adult patients Gene therapy as a potential therapeutic option for DMD: a qualitative preference study of patients and parents Long-term natural history data in DMD ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Other disorders Investigational RNAi therapeutic targeting C5 is efficacious in pre-clinical models of Myasthenia gravis A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia
In brief
TREAT-NMD 2nd Expert Masterclass in SMA - 29-30 October 2019 - London, UK Registrations are open for the 2nd Masterclass in SMA organised by TREAT-NMD which will take place in London, UK on Tuesday 29th and Wednesday 30th October 2019. Closing date for applications: 9th August 2019 Read more
Polyglocusan storage myopathies - 13-15 December 2019 - The Netherlands This ENMC workshop will take place from 13th to 15th December 2019 at Hoofddorp , The Netherlands. Read more
RE(ACT) Congress 2020 and IRDiRC Conference - 14 – 17 June 2020 - Newcastle-upon-Tyne, UK The International Meeting on Mitochondrial Pathology will take place at Newcastle-upon-Tyne, UK in 14th-17th June. Read more
Launch of TREAT-NMD new website The European network TREAT-NMD launched a new website. Developed following a consultation of its visitors, this new clear and airy version offers more immediately accessible information. Read more
Job opportunities The Institute of Myology opens a postdoctoral research scientist position. Genethon is seeking a Intellectual property Assistant and a Translational Researcher. 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