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Institut de la Myologie

Newsletter #85

Welcome to the 85th issue of our newsletter!

The Institute’s Summer School of Myologiy is coming and becomes AcadeMYO. Entirely virtual this year, it will take place from July 5 to 9, in partnership with the European Reference Network EURO-NMD. The new digital format includes a significant portion of pre-available lectures (approximately 40 recorded lessons) and a further portion lessons and interactive workshops broadcast live. During interactive workshops, the participants will be split into small groups to promote discussions.

> Read the interview with Norma B. Romero and J. Andoni Urtizberea, AcadeMYO leaders.

At the Institute
Launch of ENMC Mid-Career Mentoring Programme – Interview with Dr Ana Ferreiro This programme is open to doctors and scientists, as well as to individuals who wish to deliver innovation and federative and co-operative leadership with a view to achieving progress for the common good. Read more

SMA-PAR, a study of the parenthood experience of parents of children with SMA conducted by Sophie Boursange Sophie Boursange, psychologist at I-Motion, is currently carrying out research in human and social sciences within the department, under the supervision of Prof. Marcela Gargiulo. It aims to describe the subjective experience of parents and to analyze the impact of the disease on family and daily life in a rapidly changing therapeutic environment. Read more

Upcoming M&M's – Muscle Monday Seminars M&M’s – Muscle Monday Seminars are organized by the Myology Centre for Research, at the Institute of Myology. They are given by videoconference. Next guests in June & July 2021 are Tom Cooper, Shin’ichi Takeda, Diane Mathis, Rosanna Piccirillo et Silvère M van der Maarel. Read more

French-Iranian symposium on Therapeutic Updates in Neuromuscular Disorders The French-Iranian symposium, focused on therapeutic updates in Neuromuscular Disorders and supported by FILNEMUS (the French Rare Health Care for Neuromuscular Diseases Network), took place by videoconference on Friday, May 21st, 2021. Read more

Our latest news
Treating cardiomyopathy earlier with angiotensin converting enzyme inhibitors preserves heart function in BMD A retrospective French study relating to a cohort of adult patients with BMD, has just recently demonstrated the benefit of using the ACE inhibitors well before the left ventricular ejection fraction (LVEF) drops below 40%. Read more

Life expectancy is increasing for DMD thanks to the angiotensin-converting enzyme inhibitors A French retrospective study relating to a cohort of boys with DMD presenting normal left-ventricular function, has just demonstrated the efficacy of the ACE inhibitors on increasing life expectancy and reducing hospitalisation rates. Read more

Identification of a slow and gradual decline in muscle strength in GNE myopathy and tailored tools to evaluate it Characterised by distal muscle weakness, GNE myopathy (also known as Nonaka myopathy, hereditary inclusion body myositis, distal myopathy with rimmed vacuoles or quadriceps-sparing myopathy) is caused by abnormalities in the GNE gene, which codes an enzyme involved in sialic acid biosynthesis. To date, only two natural history studies of this disease have been published, one relating to 24 patients followed up over a one-year period, and the other to 38 patients followed up over a 14-month period. Read more

Reprogrammed pluripotent stem cells: formidable tools to test innovative neuromuscular disease therapies In the field of innovative therapies for neuromuscular diseases, having access to a model, whether cell or animal, for a given disease is a major benefit. These models make it possible to test several therapeutic hypotheses on a large scale, and are usually a prerequisite to starting human trials. Since animal models are rare in a natural state and are more complex to study, cell models are very commonly used. The development of somatic stem cells that are taken from the skin of patients and are reprogrammable, known as iPSCs (induced pluripotent stem cells), is truly revolutionary for researchers. They make it possible to recreate, in vitro, the conditions of the neuromuscular disease being studied. Read more

Motor neurons and myotubes interact via secreted endogenous neuronal and muscle growth factors European researchers showed that functional neuromuscular junctions can form in vitro in a co-culture of immortalized human myoblasts and motor neurons, using culture medium free of serum and neurotrophic or growth factors. Read more

A new functional scale adapted to LGMD, in particular to dysferlinopathies An international consortium behind the natural history protocol dedicated to dysferlinopathies (Jain-COS) reports on its experience with a new tool built for this purpose and called NSAD for North Star Assessment for Limb Girdle Type Muscular Dystrophies. Read more

The phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy An international consortium reviewed the clinical, laboratory and muscle imaging data of the different phenotypes into which the 168 patients participating in the protocol were classified. It reached the conclusion that, in fact, this involved a phenotype continuum between distal involvement and proximal involvement. Read more

More breaking news
Reldesemtiv, which does not affect the production of SMN, is effective in type II, III and IV SMA Reldesemtiv (CK-2127107) is an activator of skeletal muscle troponin, a calcium-sensitive sarcomere protein. By slowing the rate of calcium release in skeletal muscles, it improves their contractility. Read more

Growing number of gene therapy approaches in CMT According to 3 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. Read more

Spinal Muscular Atrophy
Charcot-Marie-Tooth disease
Inflammatory myopathies
Myasthenia gravis
Limb-girdle muscular dystrophies
Basic research and other disorders
In brief
Update of the Muscle Atlas The new version of the Institute's Muscle Atlas has just been put online. More than 4,300 pictures of muscle biopsies of animal and human origin, all characterised according to the disease and at different stages of the disease, have been recorded by now. Read more

World Muscle Society Virtual Congress 2021 20-24 September 2021 – Virtual Read more

7th Congress of the European Academy of Neurology 19-22 June 2021 – Virtual Read more

ERN Euro-NMD webinars Next webinars organized the European network EURO-NMD : "Addressing disease heterogeneity in myotonic dystrophy. Towards personalized intervention" given by Allain Geille, Baziel van Engelen et Peter-Bram ‘t Hoen on June 10 at 4pm, and on June 24 at 4pm : "New LGMD classification" given by Volker Straub. Read more

Job opportunities The institute is recruiting a Research Associate (M/F), an Engineer (M/F) and a Webmaster & Community manager (M/F). 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 scientific, medical, political and community news about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.
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This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chambers; Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2021 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.