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Institut de la Myologie

Newsletter #66

Final result of 89,189,384 euros for Telethon 2017, thank you!

The 31st Telethon edition reaches a final result of 89,189,384 euros. On 8th and 9th December 2017, the Telethon enthralled the public throughout France. See you on December 7th and 8th 2018!

In February 1958, a handful of parents who were outraged by the ignorance and powerlessness of medicine and science to cope with the neuromuscular diseases that affected their children, decided to embark on the battle against these diseases and created the AFM .
That was the beginning of a long struggle for the recognition of rare diseases, which had until then been neglected, the care of patients and the development of therapeutics, marked by key dates. For 60 years, generations of courageous, committed and determined parents have followed one another with the same goal: to conquer neuromuscular diseases.

Rare Disease Day has grown enormously since the first edition, in 2008, when just 18 countries, mainly from Europe, participated. For 2018 patient groups, medical professionals and friends of Rare Disease Day hosted events in over 90 countries! This year the #ShowYourRare campaign was launched with thousands across the world painting their face to show their support for those living with rare diseases.

At the Institute
Development of a prognostic score in DM1 - Interview with Dr. Karim Wahbi Dr. Karim Wahbi led a study in which medical data from nearly 1,300 myotonic dystrophy type 1 (DM1) patients were analysed over 10 years. This allowed to develop and validate a clinical tool useful for healthcare professionals. Read more

Acquisition of a high-performance confocal microscope at the Institute - Interview with Bruno Cadot The new microscope combines the latest and most advanced technologies: better resolution, considerably reduced exposure time for capturing images, a wider visual field, the possibility of filming movements on living material. Read more

Our latest news
Anti-myostatin therapy is effective if the level of myostatin is sufficient Anti-myostatin molecules inhibit the myostatin pathway: myostatin is a protein secreted by muscle that naturally inhibits muscle growth. Several therapeutic approaches aimed at increasing muscle mass and targeting myostatin have been studied in clinical trials. However, so far, the results have been inconclusive. Read more

Immune-mediated necrotizing myopathies: time to update the pathologic criteria? This study aimed to characterise muscle fibre necrosis in immune-mediated necrotizing myopathies (IMNM) with anti-signal recognition particle (SRP) or anti-3-hydroxy-3-methylglutarylcoenzyme A reductase (HMGCR) antibodies and to explore its underlying molecular immune mechanisms. Read more

The benefits and tolerance of exercise in myasthenia gravis Research exploring the effects of physical exercise in auto-immune myasthenia gravis (MG) is scarce. The few existing studies present methodological shortcomings limiting the conclusions and generalisability of results. Read more

Childhood-onset form of DM1 and autism spectrum disorder: Is there comorbidity? DM1 is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Read more

Allele-specific silencing therapy: a promising therapeutic strategy for autosomal‐dominant centronuclear myopathy Rapid advances in allele-specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. Authors used here this strategy for autosomal-dominant centronuclear myopathy, a rare neuromuscular disorder due to heterozygous mutations in the DNM2 gene encoding Dynamin 2. Read more

More breaking news
Potential of eteplirsen in preserving respiratory function in patients with DMD Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment. Read more

Telehealth applications for outpatients with neuromuscular or musculoskeletal disorders In this narrative review, the authors describe the current technology, applications, outcomes, and limitations of the dynamically growing field of medical services remotely through technology. Evidence for telehealth applications related to neuromuscular diseases, palliative care, specialized multidisciplinary services, and musculoskeletal care are reviewed. Read more

Facioscapulohumeral muscular dystrophy
Inflammatory myopathies
Glycogen storage diseases
Other neuromuscular diseases and basic research
In brief
A look back on the International Scientific Congress on SMA in Krakow More than 450 researchers, clinicians, members of the pharmaceutical industry, patients, and young researchers gathered at the end of January in Krakow, Poland. Read more

DMD care considerations update: Part 1 Since the publication of the DMD care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. Read more

Diagnosis and management of SMA: updated recommendations In this two-part document, the SMA Care Group updates topics covered in the standard of care recommendations for SMA published in 2007. Read more

Share4Rare – the project to develop a new collective awareness platform for social innovation launches! Based on a socially innovative approach, and building on citizen science and collective intelligence, the Share4Rare Project will engage and connect all relevant stakeholders towards improving quality of life, disease management and collection of scientific knowledge and data on rare diseases. Read more

RD-Connect and EuroBioBank launches sample catalogue The Sample Catalogue, which allows researchers to find biological samples from rare disease patients for research purposes, is open to all users free of charge and contains essential information and links to the biobanks where the sample is located to facilitate requesting the samples. Read more

Deadline of abstract submission for next WMS congress Deadline of abstract submission is the 9th of April for the 23nd Congress of WMS, 2-6 October 2018, Mendoza, Argentina. Read more

Job opportunities Applications are invited for an experienced and enthusiastic Research Assistant to join Professor Matthew Wood’s laboratory and undertake a preclinical project utilising peptide delivered oligonucleotides for the therapeutic treatment of Myotonic Dystrophy type 1 (DM1). 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. 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