Newsletter #59

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	Newsletter #59

Welcome in the 59th édition of our newsletter! The AFM-Telethon and the ‘Sociétés de Projets Industriels’ SPI (Industrial Projects Companies) investment fund are creating YposKesi, the first French company to develop and produce gene and cell therapy products for rare diseases. This new company aims to make the first treatments available to patients and market them at a fair and controlled price, consistent with the commitment made by AFM-Téléthon and its founders’ characteristic general interest strategy. You can find out more about this great initiative here. The improvement in motor function observed in the CHERISH trial in children with type 2 SMA treated with nusinersen being “highly significant”, this double-blind trial will be stopped so that all participants (including Those initially under placebo) could receive the molecule as part of the open extension phase of this assay (SHINE trial). Also for nusinersen, the application for marketing authorization that has been filed with the EMA will be examined via an accelerated evaluation procedure, and in the meantime, early access to nusinersen in France for people with ADM type 1 Is carried out by a temporary use authorization (TUA) In a few days, the 30th edition of the Telethon will begin! AFM-Téléthon and France Télévisions are proud to have Garou, the reputed singer from Quebec, once again as the ambassador of this edition of the Telethon. Remember, the success of Generation Telethon depends on you!
At the Institute
WMS 2016 - The Institute rewarded with several awards This conference is an opportunity to bring together researchers, clinicians and neuropathologists worldwide and to take stock of the latest advances in myology on an international scale. Read more
Laminopathies: 3rd meeting of the LMNA consortium An international scientific meeting on the congenital forms of laminopathies was held at the end of October at the Institute of Myology. Read more
Our latest news
Potential of cerebrospinal fluid delivery of an AAV vector to treat SMA patients Authors demonstrated the efficacy of injecting a gene therapy product into the cerebrospinal fluid (CSF) of a spinal muscular atrophy (SMA) mouse model. Read more
Unravelling the myotonic dystrophy type 1 clinical spectrum The broad clinical spectrum of DM1 creates particular challenges for both medical care and design of clinical trials. Read more
Idebenone and inspiratory muscle function in DMD patients Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with DMD. Read more
Expanding the clinical spectrum of human diseases caused by reduced choline transporter 1 The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes. Read more
The Clinical Outcome Study for dysferlinopathy: An international multicenter study The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, describing the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. Read more
Expanding the phenotypical spectrum of KLHL40 related nemaline myopathy Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Read more
Variants in PYROXD1 cause early-onset myopathy with distinctive histopathology PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). Read more
International breaking news
Spinal muscular atrophy (SMA): nusinersen in the news Biogen has submitted a marketing authorisation application (MAA) to the European Medicines Agency (EMA) for nusinersen as a treatment for SMA. Read more
SMA: positive interim data from the CHERISH trial Positive interim results have been reported for the phase III trial of SpinrazaTM (nusinersen) in children with Type 2 SMA. Read more
Efficacy of metformin in Hutchinson–Gilford progeria syndrome In this study supported by th AFM-Telethon, a team of French researchers explored the therapeutic potential of metformin for HGPS patients by analyzing its effect on progerin content and HGPS-associated functional defects. Read more
Duchenne Muscular Dystrophy Identification of a novel mechanism of muscular dystrophy Cell-mediated immunity: a possible therapeutic target in DMD? Value of quantitative MRI to track DMD progression Muscle activation during gait in DMD Ten-year clinical experience with corticotherapy for DMD patients Deflazacort is better tolerated and results in a lower incidence of weight gain than prednisone
Other neuromuscular diseases Effect of gender, disease duration and treatment on muscle strength in myasthenia gravis Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA Identification of a novel mechanism of muscular dystrophy A novel technique to evaluate motor function Detection of MME mutations and late-onset polyneuropathies SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease
In brief
Call for SMA research proposals The deadline for receipt of applications is the 8 December 2016. Read more
EURODIS Summer School 2017 The deadline for applications is 30th November 2016. Read more
Job opportunity The Great Ormond Street Hospital Children’s Charity and UCL (London, UK) are seeking Clinical Reader in Paediatric Neurology/ Neuromuscular Disorder Read more
Latest Publications from the Institute
Laforet, P. What have we learned about glycogenosis in recent years? Rev Neurol (Paris), 2016 ; (SP) : Armbruster, N.,Lattanzi, A.,Jeavons, M.,Van Wittenberghe, L.,Gjata, B.,Marais, T.,Martin, S.,Vignaud, A.,Voit, T.,Mavilio, F.,Barkats, M.,Buj-Bello, A. Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy Mol Ther Methods Clin Dev, 2016 ; 3 (SP) : 16060 Ricotti, V.,Evans, M. R.,Sinclair, C. D.,Butler, J. W.,Ridout, D. A.,Hogrel, J. Y.,Emira, A.,Morrow, J. M.,Reilly, M. M.,Hanna, M. G.,Janiczek, R. L.,Matthews, P. M.,Yousry, T. A.,Muntoni, F.,Thornton, J. S. Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials PLoS ONE, 2016 ; 11 (9) : e0162542 De Antonio, M.,Dogan, C.,Hamroun, D.,Mati, M.,Zerrouki, S.,Eymard, B.,Katsahian, S.,Bassez, G.,French Myotonic Dystrophy Clinical, Network Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification Rev Neurol (Paris), 2016 ; (sp) : Trochet, D.,Prudhon, B.,Jollet, A.,Lorain, S.,Bitoun, M. Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing Mol Ther Nucleic Acids, 2016 ; 5 (9) : e362 Moyon, Q.,Benveniste, O. Intérêt de la rééducation fonctionnelle au cours des myopathies inflammatoires. Rev Med Interne, 2016 ; (SP) : Sanges, S.,Yelnik, C. M.,Sitbon, O.,Benveniste, O.,Mariampillai, K.,Phillips-Houlbracq, M.,Pison, C.,Deligny, C.,Inamo, J.,Cottin, V.,Mouthon, L.,Launay, D.,Lambert, M.,Hatron, P. Y.,Rottat, L.,Humbert, M.,Hachulla, E. Pulmonary arterial hypertension in idiopathic inflammatory myopathies: Data from the French pulmonary hypertension registry and review of the literature Medicine (Baltimore), 2016 ; 95 (39) : e4911 Gaillard, M. C.,Puppo, F.,Roche, S.,Dion, C.,Campana, E. S.,Mariot, V.,Chaix, C.,Vovan, C.,Mazaleyrat, K.,Tasmadjian, A.,Bernard, R.,Dumonceaux, J.,Attarian, S.,Levy, N.,Nguyen, K.,Magdinier, F.,Bartoli, M. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report BMC Med Genet, 2016 ; 17 (1) : 66 Eymard, B.,Camdessanche, J. P. Foreword Rev Neurol (Paris), 2016 ; 172 (10) : 537-538 Redelsperger, F.,Raddi, N.,Bacquin, A.,Vernochet, C.,Mariot, V.,Gache, V.,Blanchard-Gutton, N.,Charrin, S.,Tiret, L.,Dumonceaux, J.,Dupressoir, A.,Heidmann, T. Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice PLoS Genet, 2016 ; 12 (9) : e1006289 Oestergaard, S. T.,Stojkovic, T.,Dahlqvist, J. R.,Bouchet-Seraphin, C.,Nectoux, J.,Leturcq, F.,Cossee, M.,Sole, G.,Thomsen, C.,Krag, T. O.,Vissing, J. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Neurol Genet, 2016 ; 2 (6) : e112 Masat, E.,Laforet, P.,De Antonio, M.,Corre, G.,Perniconi, B.,Taouagh, N.,Mariampillai, K.,Amelin, D.,Mauhin, W.,Hogrel, J. Y.,Caillaud, C.,Ronzitti, G.,Puzzo, F.,Kuranda, K.,Colella, P.,Mallone, R.,Benveniste, O.,Mingozzi, F. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients Sci Rep, 2016 ; 6 : 36182 Bradburn, S.,McPhee, J. S.,Bagley, L.,Sipila, S.,Stenroth, L.,Narici, M. V.,Paasuke, M.,Gapeyeva, H.,Osborne, G.,Sassano, L.,Meskers, C. G.,Maier, A. B.,Hogrel, J. Y.,Barnouin, Y.,Butler-Browne, G.,Murgatroyd, C. Association between osteocalcin and cognitive performance in healthy older adults Age Ageing, 2016 ; (SP) :

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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: Gaëlle Barrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Nathalie Haslin. Do you have any questions? Would you like to share some news? Please contact us. © 2016 - AFM - Institut de Myologie. ISSN 1772-9866