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Institut de la Myologie

Newsletter #69

Telethon 2018: Under the sign of victories!

After a long break for the summer holidays, welcome to the latest issue of our newsletter!

The Great Family Celebration was an opportunity to look back on 60 years of struggles and victories, and to celebrate advances in research, rights and support for the patients. The kick-off of the Telethon 2018 has also been given: Pascal Obispo will be the ambassador of this new edition placed under the sign of victories!

At the Institute
DMD: I-Motion includes patients in the phase I trial of a new molecule Dr. Teresa Gidaro is the principal investigator for France in the multicentre, WAVE trial that launched in June at I-Motion. The purpose of this phase I international trial is to evaluate the safety, tolerability and pharmacokinetic profile of WVE-210201. The molecule will be administered intravenously in 40 non-ambulatory boys, aged 5-18 years with Duchenne muscular dystrophy (DMD) and amenable to exon 51 skipping. Read more

Martine Barkats and AAV9-SMN: from discovery to treatment In March 2018, Genethon and AveXis concluded an agreement on the patent exploitation filed in 2007 by Martine Barkats concerning her work at Genethon since 2004. Martine Barkats joined the Institute of Myology in 2010. Since then, she and her team have continued their research to develop innovative therapies for motor neuron diseases. Read more

The institute will participate in the Science Fair on 13th & 14th October For this new 2018 edition of the French science festival, “Fête de la Science”, researchers at the institute offer you to follow step by step the different techniques used to bring new knowledge on the field of muscle and to create the therapies of tomorrow. Read more

Our latest news
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy Clinicians from the Institute of Myology designed this study to estimate the risk of VTE in MD and its survival consequences. Read more

Baseline data from the NatHis-SMA study Here, the authors present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Read more

Metformin improves motor skills in patients with DM1 A phase II trial conducted in 40 patients shows that, after 48 weeks of treatment at the highest dose, patients treated with metformin (against placebo) gain in motor skills and find a more stable approach. Read more

Myositis: A new classification system based on phenotypic, biological and immunological criteria Four types of myositis that consider all the clinical criteria of patients have been defined. A new classification that paves the way for reliable diagnosis and personalised treatments for patients. Read more

A French first in cardiac surgery for Duchenne and Becker myopathies A left ventricular assist device was implanted in two patients with myopathy (Duchenne and Becker), with refractory heart failure and not eligible at this stage for transplantation. Read more

Clinical, morphological, and genetic aspects of protein aggregate myopathies Here, the authors retrospectively analysed genetic mutations and demographic, clinical, and morphological aspects of PAM in 48 patients (29 men, 19 women), divided into two groups weather they were carrying genetically (GIM) and nongenetically identified (NGIM) mutations associated with myofibrillar myopathy. Read more

Cultured Human Thymic-Derived Cells Display Medullary Thymic Epithelial Cell Phenotype and Functionality Thymic epithelial cells are one of the main components of the thymic microenvironment required for T-cell development. In this work, researchers from the institute describe an efficient method free of enzymatic and Facs-sorted methods to culture human medullary thymic epithelial cells without affecting the cell phenotypic, physiologic and functional features. Read more

Review of novel therapeutic strategies for autoimmune MG Various therapeutic strategies have been used over the years to alleviate Myasthenia Gravis symptoms: fluctuating, fatigable muscle weakness that worsens with activity and improves with rest. These strategies aim at improving the transmission of the nerve impulse to muscle or at lowering the immune system with steroids or immunosuppressant drugs. Read more

Efficacy of rituximab in refractory generalized anti-AChR Myasthenia Gravis Several retrospective case series have suggested rituximab (RTX) might improve patients with refractory Myasthenia Gravis (MG). This study evaluated prospectively the efficacy of RTX on muscle function in patients with severe, refractory generalized anti-acetylcholine receptor (AChR) MG. Read more

More breaking news
Preliminary motor function data of nusinersen in type 1 SMA patients This study reports the six-month results of nusinersen use in 104 type 1 SMA patients, ranging from three months to 19 years, 9 months of age. Preliminary results presented here suggest that functional improvement can be observed in type 1 patients outside the range of the inclusion criteria used in the Endear study. Read more

Role of valproic acid in OPMD-related phenotypes By employing a combination of live cell imaging and biochemical measures, the authors of the present study aimed to explore valproic acid as a potentially beneficial drug in cellular and worm models of oculopharyngeal muscular dystrophy. Read more

Spinal muscular atrophy
Duchenne muscular dystrophy and Becker muscular dystrophy
Facioscapulohumeral muscular dystrophy
Other neuromuscular diseases and basic research
In brief
Myology 2019 Bordeaux Myology 2019 Bordeaux call for poster is available until October 15th, 2018. Read more

Request for Applications - Development of a Genome Editing Strategy for DM1 Through this request, the Myotonic Dystrophy Foundation recognizes a need to advance genome editing technology and evaluate its potential as a candidate therapy for use in DM1. Read more

229th ENMC international workshop: LGMD - Nomenclature and reformed classification The new definition ensures that LGMD is a clear, distinct entity with several common de- nominators between sub-types. The proposed classification allows for future discoveries to be added to the list of existing LGMD subtypes. Read more

Job opportunities The Institute of Myology is seeking a Project manager to assist with editing and managing research projects, Postdoctoral researchers and a Medical research assistant. Genethon is offering 3 Postdoctoral positions. Read more

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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.
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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: Racquel N. Cooper; Anne Berthomier. Also participate: Hala Alameddine; Delphine Alibert. Do you have any questions? Would you like to share some news? Please contact us. © 2018 - AFM - Institut de Myologie. ISSN 1772-9866