Newsletter #60

Check the mail online click here

	Newsletter #60

The Institute of Myology wishes you a successful 2017! Welcome to the first issue of our newsletter for the new year! On January 30, François Hollande, the President of the French Republic, paid tribute to the actors of the Telethon during a reception at the Palais de l’Elysée. The Institute of Myology was represented for its active participation in the Telethon and the emergence of new treatments for the patients. A great honor and recognition of all the work undertaken by each of us! Last December, the 30th Telethon ended on a counter of more than 80 million euros. Through your continued support and contribution, research advances for rares diseases will progress, particularly within our institute. Thank-you! Our newsletter begins with an inspiring interview with Dr. Jorge Bevilacqua who talks about the success EVELAM, its objectives and how it impacts myology at the international level. February 28th marks the 10th edition of Rare Disease Day. Each year, this day of solidarity unites an ever-growing number of participating countries. This year will see thousands of people from all over the world come together to advocate the need to scale up research on rare diseases. At the Institute of Myology, we know how much patients rely on us and are determined to go faster and farther!
At the Institute
EVELAM: the result of a fruitful collaboration between myology experts from Latin America and Europe that will benefit myology at the international level Interview with one of its founders, Dr. Jorge Bevilacqua, physician and researcher who has been practicing for 20 years in Santiago de Chile at the Hospital Clinico Universidad de Chile. Read more
Optimizing therapeutic approach to cure Duchenne Muscular Dystrophy Team 5 from institute’s Myology Center for Research is directed by France Pietri-Rouxel. Focused on Duchenne muscular dystrophy, it is involved in translational research: from basic research to clinical trials. Read more
Glycogenoses: information and meeting days for families Organised during the general assembly of the French Association for Glycogenoses (AFG), families and research stakeholders involved in glycogenoses were brought together over two days. Read more
Our latest news
Sudden death is a frequent mode of death in DM1 In this study, the authors retrospectively enrolled 1388 adults with DM1 to describe the incidence and identify predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in DM1. Read more
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. Read more
Cori-Forbes disease: follow-up of a French cohort makes it possible to specify its progression The authors described the clinical and molecular data from 18 patients with Cori-Forbes disease. The patients were followed in 2006 and 2010 at the Institute of Myology, with the aim of evaluating the degree of disease progression. Read more
A novel STIM1 mutation causes TAM with features of Stormorken syndrome Here, the authors present the case of a 41-year-old female complaining of exercise intolerance. Read more
Myopathy with polyglucosans: the muscular phenotype can be retractile Clinicians described the original case of a 3-year-old child with neonatal arthrogryposis associated with delayed motor acquisitions and rigid spine syndrome. Read more
Autoimmune necrotizing myopathy: the value of autoantibody assays An international consortium of nine countries described the results of anti-HMGCR assays in a population of 1906 people, the majority (1250) of whom had inflammatory myopathy. Read more
International breaking news
SMA: first results of the ENDEAR trial For the duration of the trial, Spinraza™ reduced the risk of death or the need for assisted ventilation in infants with type 1 SMA by 47%. Read more
Pediatric necrotizing myopathy associated with anti- HMGCR antibodies This study aimed to identify the paediatric patients positive for anti-HMGCR antibodies and clarify their features and therapeutic strategies. Read more
Duchenne and Becker muscular dystrophies Survey finds that 25% of women are unaware of their Duchenne/Becker muscular dystrophy carrier status European cross-sectional survey of current care practices for DMD Decreased cerebral perfusion in DMD patients Potential of anisotropic alterations as novel indices of disease status Economic evaluation of treatments for DMD
Spinal muscular atrophy Further characterisation of prenatal and postnatal features of type 0 SMA Efficacy and safety of nusinersen for the treatment of infantile-onset spinal muscular atrophy Utility of a mixed methods study to identify efficacy of salbutamol in patients with SMA Willingness to pay for a newborn screening for SMA SMA: positive interim data from the CHERISH trial
Facioscapulohumeral muscular dystrophy Receptor tyrosine kinase inhibitors: a potential therapeutic strategy for FSHD? Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy
Pompe disease Exposure to Myozyme in LOPD patients results in early development of antibodies to the protein which decrease with continued ERT Practical recommendations for diagnosis and management of respiratory muscle weakness in aate-onset Pompe Disease
Limb-girdle muscular dystrophy Identification of a novel form of muscular dystrophy with reduced Notch signaling and satellite cell loss The Italian LGMD registry
Other neuromuscular diseases Dominant MYOT mutations causes a more severe and proximal muscular dystrophy Identification of new TTN mutations causing recessive distal titinopathy Extending the clinical and genetic spectrum of the ORAI1-related tubular aggregate myopathy Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene Sialic acid supplementation may stabilise muscle strength in subjects with GNE myopathy
In brief
WMS 2017 The 22nd international congress of the World Muscle Society will take place from 3 to 7 october in St Malo, France. Read more
3rd IRDiRC conference The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France. Read more
CureDuchenne Ventures invests in TRiNDS to provide clinical trial expertise CureDuchenne Ventures is investing in Therapeutic Research in Neuromuscular Disorders Solutions (TRiNDS), a new specialised contract research organization. Read more
An Online Educational Resource for Limb Girdle Muscle Weakness (LGMW) Resources available here provide clinically-relevant, up-to-date information on advances in LGMW and practical aspects of patient management. Read more
A Comedy Drama About Muscular Dystrophy: “The Fundamentals of Caring” A Netflix film that focuses on what it’s like to have muscular dystrophy as a teenager and what it’s like to be a carer. Read more
Job opportunity A postdoctoral position is available at Linnaeus University in Kalmar, Sweden. Read more
Latest Publications from the Institute
Fraysse, B.,Guicheney, P.,Bitoun, M. Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Biol Open, 2016 ; 5 (11) : 1691-1696 Bonne, G.,Sole, G. La Societe Francaise de Myologie a du coeur. Med Sci (Paris), 2016 ; 32 Hors serie n degrees 2 : 5 Stojkovic, T. Hereditary neuropathies: An update Rev Neurol (Paris), 2016 ; 172 (12) : 775-778 Cacheux, M.,Blum, A.,Sebastien, M.,Wozny, A. S.,Brocard, J.,Mamchaoui, K.,Mouly, V.,Roux-Buisson, N.,Rendu, J.,Monnier, N.,Krivosic, R.,Allen, P.,Lacour, A.,Lunardi, J.,Faure, J.,Marty, I. Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein J Neuromuscul Dis, 2015 ; 2 (4) : 421-432 Cruz, S.,Figueroa-Bonaparte, S.,Gallardo, E.,de Becdelievre, A.,Gartioux, C.,Allamand, V.,Pinol, P.,Garcia, M. A.,Jimenez-Mallebriera, C.,Llauger, J.,Gonzalez-Rodriguez, L.,Cortes-Vicente, E.,Illa, I.,Diaz-Manera, J. Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum J Neuromuscul Dis, 2016 ; 3 (2) : 267-274 Marey, I.,Ben Yaou, R.,Deburgrave, N.,Vasson, A.,Nectoux, J.,Leturcq, F.,Eymard, B.,Laforet, P.,Behin, A.,Stojkovic, T.,Mayer, M.,Tiffreau, V.,Desguerre, I.,Boyer, F. C.,Nadaj-Pakleza, A.,Ferrer, X.,Wahbi, K.,Becane, H. M.,Claustres, M.,Chelly, J.,Cossee, M. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms J Neuromuscul Dis, 2016 ; 3 (2) : 227-245 Carlier, P. G.,Marty, B.,Scheidegger, O.,Loureiro de Sousa, P.,Baudin, P. Y.,Snezhko, E.,Vlodavets, D. Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials J Neuromuscul Dis, 2016 ; 3 (1) : 1-28 Price, M. A.,Barghout, V.,Benveniste, O.,Christopher-Stine, L.,Corbett, A.,de Visser, M.,Hilton-Jones, D.,Kissel, J. T.,Lloyd, T. E.,Lundberg, I. E.,Mastaglia, F.,Mozaffar, T.,Needham, M.,Schmidt, J.,Sivakumar, K.,DeMuro, C.,Tseng, B. S. Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA J Neuromuscul Dis, 2016 ; 3 (1) : 67-75 El Mendili, M. M.,Lenglet, T.,Stojkovic, T.,Behin, A.,Guimaraes-Costa, R.,Salachas, F.,Meininger, V.,Bruneteau, G.,Le Forestier, N.,Laforet, P.,Lehericy, S.,Benali, H.,Pradat, P. F. Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA PLoS ONE, 2016 ; 11 (4) : e0152439 Roy, P.,Rau, F.,Ochala, J.,Messeant, J.,Fraysse, B.,Laine, J.,Agbulut, O.,Butler-Browne, G.,Furling, D.,Ferry, A. Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle Skelet Muscle, 2016 ; 6 (23) : 1-17 Scalco, R. S.,Snoeck, M.,Quinlivan, R.,Treves, S.,Laforet, P.,Jungbluth, H.,Voermans, N. C. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med, 2016 ; 2 (1) : e000151 Baraibar, M. A.,Hyzewicz, J.,Rogowska-Wrzesinska, A.,Bulteau, A. L.,Prip-Buus, C.,Butler-Browne, G.,Friguet, B. Impaired energy metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Aging (Albany NY), 2016 ; (SP) : Thorley, M.,Duguez, S.,Mazza, E. M.,Valsoni, S.,Bigot, A.,Mamchaoui, K.,Harmon, B.,Voit, T.,Mouly, V.,Duddy, W. Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines Skelet Muscle, 2016 ; 6 (1) : 43 Alameddine, H. S.,Morgan, J. E. Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles J Neuromuscul Dis, 2016 ; 3 (4) : 455-473 Richard, I.,Laurent, J. P.,Cirak, S.,Vissing, J.,Brown, S,Campbell, K,Cirak, S,Gicquel, E,Hogrel, J Y,Honnet, G,Koelma, N,Laurent, J P,Mathews, K,Muntoni, F,Quijano-Roy, S,Richard, I,Robertson, A,Stevenson, H,Stojkovic, T,Straub, V,Topaloglu, H,Vajsar, J,Vissing, J,Walter, M 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands Neuromuscul Disord, 2016 ; 26 (10) : 717-724

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: 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. © 2017 - AFM - Institut de Myologie. ISSN 1772-9866