Newsletter #67

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	Newsletter #67

Save the date ! MYOLOGY 2019 - March 25-28 Welcome to our 67th newsletter! Remember! In 2009, Martine Barkats, then at Genethon, demonstrated in mice the efficacy of the vector and its systemic administration in the central nervous system to treat spinal muscular atrophy. Thanks in particular to this work (license agreement Genethon-AveXis announced last March 14th), AveXis is now developing a gene therapy whose results are spectacular for the children included in the trial in the United States. The test should be extended to Europe – and in particular to France with I-Motion- by the end of the year. Save the date! Myology 2019, the 6th International Congress of Myology organized by AFM-Telethon, will take place between March 25-28 2019 at the Bordeaux-Lac Convention Centre, in France. The world’s leading experts in myology will be present to exchange on all myology-related topics, with an ever-increasing focus on therapeutic innovations for neuromuscular diseases. > Further details on MYOLOGY 2019
At the Institute
Inclusion body myositis: Rapami is creating a buzz! Even before their publication, the promising results of the rapamycin trial were reported at a congress and communicated in the press. Read more
Third year bachelor’s degree students trained in myology For the first time this year, an optional unit dedicated to myology was proposed to third year Health Science* bachelor’s students: the result of a collaboration between the Institute of Myology and the University Paris Descartes. Read more
Our latest news
Association of specific thymic miRNAs with Myasthenia Gravis To investigate the implication of miRNAs in thymic changes associated with early-onset MG, the authors performed a miRnome study and data were analyzed with different approaches. Read more
Identification of novel non-invasive biomarkers for DMD In this article, the authors studied the signature of 87 urinary miRNAs in DMD patients, selected the most dysregulated and determined statistically significant differences in their expression between controls, ambulant and non-ambulant DMD patients, and patients on different corticosteroid regimens. Read more
DM1: correlation between respiratory complications and CTG expansions Clinicians from the neuromuscular reference center near Paris provided an update on the modalities and determinants of this respiratory involvement. Read more
DMD: the presence of a left bundle branch block indicates poor prognosis Here, myologists were interested in the predictive value of an electrocardiographic biomarker observed with a high frequency in DMD, in this case the presence of a left bundle branch block (LBBB). Read more
Dysferlinopathies and physical exercise: intensive sport should be avoided in people who are asymptomatic Researchers involved in the protocol set up by the Jain Foundation to describe here the natural history of dysferlinopathies were interested in this possible link with sports activity before the appearance of the first symptoms of dysferlinopathy. Read more
Muscle glycogen storage disease associated with glycogenin-1 deficiency: a rare, but better defined cause Researchers report in this article the clinical and biological data of nine patients with a deficiency in the GYG1 gene, encoding glycogenin-1, an enzyme involved in glycogen synthesis. Read more
Early-onset Steinert’s disease and autistic disorders: a probable association Authors performed a comprehensive update about the possible association between Steinert’s disease and autistic disorders, an issue that has been hotly debated. Read more
Identification of a unique CAG interruption in 5′ of DM1 CTG repeats These interruptions are shown to be associated with maternal intergenerational contractions and low somatic mosaicism in blood. Read more
More breaking news
Development of a treatment algorithm for SMA affected infants identified via newborn screening This study describes the outcome of a working group of 15 SMA experts who aimed to develop a treatment algorithm for SMA-positive infants identified through newborn screening based upon SMN2 copy number. Read more
Long-term follow up of humoral responses to AAV vectors in DMD patients Recent studies have shown compelling evidence of therapeutic efficacy in large animal models following the intravenous delivery of AAV vectors expressing truncated forms of dystrophin. However, to translate these results to humans, careful assessment of the prevalence of anti-AAV neutralizing antibodies (NAbs) is needed, as presence of preexisting NABs to AAV in serum have been associated with a drastic diminution of vector transduction. Read more
Duchenne muscular dystrophy Development and evaluation of a trunk orthosis for DMD patients Serum proteomic analysis to follow DMD and BMD disease progression
Facioscapulohumeral dystrophy Monosomy 18p is a risk factor for FSHD Significant clinical variability in motor function in early-onset FSHD
Spinal muscular atrophy Evaluation of children with SMA type 1 under treatment with nusinersen SMA: new gene therapy results
Pompe disease Elevated incidence of infantile Pompe disease in French Guiana Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease
Other neuromuscular diseases and basic research Minimally invasive fusionless surgery for neuromuscular scoliosis Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands Quantitative fluorescence in GNE myopathy muscle biopsies Thymidine kinase 2 deficiency: a retrospective natural history study Is exercise the right medicine for dystrophic muscle? Telehealth for patients with neuromuscular disorders Detailed clinical characterisation of congenital titinopathy Safety and efficacy of the Vacora® vacuum-assisted biopsy system Taurine supplementation reduces the recurrence of stroke-like episodes in MELAS Narcoleptic-like phenotype in DM1
In brief
The Care of Congenital Myopathy: A Guide for Families This guide is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response to community requests for useful information to help guide them. Read more
Call for applications - « EIT Health DPhil/PhD Transition Fellowships » program This competition is open to doctoral students in the final year of their thesis, and to their supervisors, whose innovative project meets the objectives of the EIT in the field of health. Deadline for submission of applications June 9. Contact at Sorbonne Université : Alexandre Escargueil, alexandre.escargueil@sorbonne-universite.fr Read more
Golden Helix Summer School - Syros, Greece - September 26-30 The theme of the Summer School is “Rare Genomics: Genomics of Rare Diseases, Rare Cancers and rare Drug Outcomes”. Registration and abstract submission closes 1st July 2018. Read more
Translational Summer School - Newcastle upon Tyne, UK - July 2-6 This five-day summer school has been developed for researchers and clinicians interested in translational research. Read more

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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: 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