Newsletter #51

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	2015-06-16 Newsletter #51

Our website has had makeover! We certainly have been busy behind the screens at the Institute of Myology. The new site now has a more modern design with easier navigation throughout the site, which should hopefully make it easier for you to find the content you’re searching for. In addition to acknowledging the new demands of data security and access, we hope that the new site optimally reflects the reality of the teams’ work at the Institute, including the close cooperation between researchers and clinicians. This translational approach to disease allowing, in the same place, the transfer of knowledge from basic to applied research and clinical observations to basic research, is a strong symbol of the Institute’s identity. More emphasis is given to the presentation of the affiliated university teaching, as well as paediatrics, through I-Motion and the Research Centre gathering all teams since January 1st 2014. Particular attention has been paid to Myobank and the presentation of clinical trials and their registration methods/ recruitment. The future Muscle Foundation is being established and the site can testify to the progress of this proposed international centre. The new website aims to encourage this “integrated” vision of myology research in all its dimensions and to accelerate and advance the AFM-Telethon’s promise to combat neuromuscular diseases. The new condensed format of our newsletter still provides a wealth of information about neuromuscular diseases, for researchers and partners of the association throughout the world. Notably, in this issue of the newsletter, researchers from centres around the world, including the Institute of Myology, show that idebenone significantly reduces the loss of respiratory function in patients with Duchenne muscular dystrophy (DMD) who were not using corticosteroids. Progressive failure of respiration is a major factor in the overall downward slide of DMD patients, and is often the main cause of early death. This is the first phase III study that has demonstrated significant and clinically relevant benefit without safety concerns in DMD and could potentially pave the way toward regulatory approval of this drug.
At the Institute
Myology 2016: registration is now open 5th edition of the International Congress of Myology will be held from 14th till 18th March in the Lyon Conference Centre, chaired by Thomas Voit (Institute of Myology, Paris, France) and Laurent Schaeffer (LBMC, Lyon, France). Read more
Summer School of Myology will takepalce from June 22 to 30 This 18th edition will bring 57 students from 26 different countries for a condensed 10-day course in Myology organized for foreign physicians and researchers. Read more
Our latest news
Idebenone slows respiratory decline in DMD Cardiorespiratory failure is the leading cause of death in Duchenne muscular dystrophy (DMD). Based on preclinical and phase 2 evidence, the authors assessed the efficacy and safety of idebenone in young patients with DMD who were not taking concomitant glucocorticoids. Read more
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E This study aimed to determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. Read more
Asymptomatic Pompe disease: To treat or not to treat? Acid alpha-glucosidase deficiency, i.e. Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated in order to prevent progression of the disease. Read more
International breaking news
A novel cardiac and skeletal protein aggregate myopathy Protein aggregate myopathies (PAMs) define muscle disorders characterised by protein accumulation in muscle fibres. The authors describe a new PAM in a patient with proximal muscle weakness and hypertrophic cardiomyopathy, whose muscle fibres contained inclusions containing myosin and myosin-associated proteins, and aberrant distribution of microtubules. Read more
Prevalence of late-onset Pompe disease in a high-risk population This multicentre observational study aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool. A total of 17 Italian neuromuscular centres were involved in the late-onset Pompe early diagnosis (LOPED) study. Read more
Becker and Duchenne muscular dystrophies Prevalence of Duchenne and Becker Muscular Dystrophies in the United States Multiplex CRISPR/Cas9 facilitates correction of DMD mutations Predicting the cardiac phenotype correlations in DMD and BMD Muscle ultrasound quantifies disease progression in DMD Combined ACE inhibitor and beta blocker of no prophylactic value in mdx mice Improved dystrophic pathology using a second-generation utrophin modulator Physiological consequences of different levels of dystrophin in the mdx mouse Effect of voluntary physical activity on skeletal and cardiac muscle
Spinal muscular atrophy Development and validation of a functional scale for spinal and bulbar muscular atrophy Development of a functional composite score for SMA Astrocytes contribute to the severity of spinal muscular atrophy Sensitive dynamometers to evaluate upper limbs in non-ambulant SMA patients
Glycogenosis Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients Diagnostic value of the non-ischaemic forearm exercise test in detecting glycogenosis type V Prevalence of late-onset Pompe disease in a high-risk population Oral fructose ingestion improves exercise tolerance in glycogen storage disease type IIIa
X-linked myopathy Use of muscle MRI to diagnose X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy does not affect cardiac muscle
Myotonic dystrophy Relationship between the ventilatory response to CO2 and the impairment of lung function in DM1 patients Genome modification to reverse DM1 phenotypes
Other In vivo rescue of dysferlin protein by SmaRT Mitochondrial dysfunction reveals the role of mRNA poly(a) tail regulation in oculopharyngeal muscular dystrophy pathogenesis Deficiency of leiomodin-3 causes nemaline myopathy in mice Zebra body myopathy: 40 years later FSHD pathology: role of miRNA Protective role of osteoprotegerin in muscle
In brief
New Guidelines for CMD Diagnosis and Care A team of 82 international experts have published guidelines to help clinicians deliver consistently high standards of care to individuals with congenital muscular dystrophy and their families. Read more
First DMD patient treated in follistatin gene therapy trial The first Duchenne muscular dystrophy (DMD) patient has been treated with follistatin gene therapy. The therapy, delivered by intramuscular injection, is designed to maintain or restore muscle function in boys affected with DMD. The therapy is based on adeno-associated virus delivery of follistatin 344 to increase muscle strength and prevent muscle wasting and fibrosis. Follistatin’s mechanism of action is not mutation specific, therefore it could potentially help other forms of muscular dystrophy. Read more
Myotonic Dystrophy Foundation funding available The Myotonic Dystrophy Foundation (MDF) has announced the availability of funding under the first of a two-phase request for proposals to conduct a population-based prevalence study in the United States, of genetic mutations and pre-mutations responsible for myotonic dystrophy (DM) types 1 and 2 (DM1 and DM2). Phase One: Development and validation of screening methodology Phase Two: Implementation of Population-based US Screen. Read more
Latest Publications from the Institute
Crudele, J. M.,Finn, J. D.,Siner, J. I.,Martin, N. B.,Niemeyer, G. P.,Zhou, S.,Mingozzi, F.,Lothrop, C. D., Jr.,Arruda, V. R. AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice Blood, 2015 ; 125 (10) : 1553-1561 Zalc, A.,Rattenbach, R.,Aurade, F.,Cadot, B.,Relaix, F. Pax3 and Pax7 Play Essential Safeguard Functions against Environmental Stress-Induced Birth Defects Dev Cell, 2015 ; 33 (1) : 56-66 Junge, N.,Mingozzi, F.,Ott, M.,Baumann, U. Adeno-associated Virus Vector Based Gene Therapy for Monogenetic Metabolic Diseases of the Liver J Pediatr Gastroenterol Nutr, 2015 ; 60 (4) : 433-440 Abou-Khalil, R.,Yang, F.,Lieu, S.,Julien, A.,Perry, J.,Pereira, C.,Relaix, F.,Miclau, T.,Marcucio, R.,Colnot, C. Role of muscle stem cells during skeletal regeneration Stem Cells, 2015 ; 33 (5) : 1501-1511 Pollanen, E.,Kangas, R.,Horttanainen, M.,Niskala, P.,Kaprio, J.,Butler-Browne, G.,Mouly, V.,Sipila, S.,Kovanen, V. Intramuscular sex steroid hormones are associated with skeletal muscle strength and power in women with different hormonal status Aging Cell, 2015 ; 14 (2) : 236-248 De Bleecker, J. L.,De Paepe, B.,Aronica, E.,de Visser, M.,Amato, A.,Benveniste, O.,De Bleecker, J.,de Boer, O.,Dimachkie, M.,Gherardi, R.,Goebel, H. H.,Hilton-Jones, D.,Holton, J.,Lundberg, I. E.,Mammen, A.,Mastaglia, F.,Nishino, I.,Rushing, E.,Daa Schroder, H.,Selcen, D.,Stenzel, W. 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands Neuromuscul Disord, 2015 ; 25 (3) : 268-272 Zimon, M.,Battaloglu, E.,Parman, Y.,Erdem, S.,Baets, J.,De Vriendt, E.,Atkinson, D.,Almeida-Souza, L.,Deconinck, T.,Ozes, B.,Goossens, D.,Cirak, S.,Van Damme, P.,Shboul, M.,Voit, T.,Van Maldergem, L.,Dan, B.,El-Khateeb, M. S.,Guergueltcheva, V.,Lopez-Laso, E.,Goemans, N.,Masri, A.,Zuchner, S.,Timmerman, V.,Topaloglu, H.,De Jonghe, P.,Jordanova, A. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach Neurogenetics, 2015 ; 16 (1) : 33-42 Kostallari, E.,Baba-Amer, Y.,Alonso-Martin, S.,Ngoh, P.,Relaix, F.,Lafuste, P.,Gherardi, R. K. Pericytes in the myovascular niche promote post-natal myofiber growth and satellite cell quiescence Development, 2015 ; 142 (7) : 1242-53 Algalarrondo, V.,Wahbi, K.,Sebag, F.,Gourdon, G.,Beldjord, C.,Azibi, K.,Balse, E.,Coulombe, A.,Fischmeister, R.,Eymard, B.,Duboc, D.,Hatem, S. N. Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1 Neuromuscul Disord, 2015 ; 25 (4) : 308-320 Portilho, D. M.,Alves, M. R.,Kratassiouk, G.,Roche, S.,Magdinier, F.,de Santana, E. C.,Polesskaya, A.,Harel-Bellan, A.,Mouly, V.,Savino, W.,Butler-Browne, G.,Dumonceaux, J. miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies PLoS ONE, 2015 ; 10 (2) : e0116853

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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 : Thomas Voit; J. Andoni Urtizberea. Redaction : Racquel N. Cooper ; Anne Berthomier. Also participate : Lisa Cukierman ; Nathalie Haslin. Do you have any questions? Would you like to share some news? Please contact us. © 2015 - AFM - Institut de Myologie. ISSN 1772-9866