Newsletter #86

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	Newsletter #86

Prof. Fabrice Chrétien joined the teams of the Institute of Myology on June 15 as Director of the Center for Neuromuscular Exploration and Assessment which is currently composed by a staff of thirty persons. It encompasses three laboratories and a tissue bank: the Neuromuscular Physiology and Evaluation Laboratory, the NMR and Spectroscopy Laboratory, the Morphological Unit and the biological resource centre MYOBANK-AFM. Prof. Fabrice Chrétien has both a scientific and medical training, more than 20 years of expertise in anatomopathology and 30 years in neuropathology. His combined clinical and research experience is a valuable asset in leading these various expert and research poles and amplifying their interactions and collaborations to develop common scientific and medical projects within the framework of the Institute’s strategic plan.
At the Institute
Success for AcadeMYO, the first virtual edition of the Myology Summer School AcadeMYO, the first fully virtual release of the institute’s Myology Summer School, took place July 5-9. This 2021 edition was a great success. In fact, 115 people attended the courses including 15 free auditors and 6 representatives of the pharmaceutical industry. Forty-five nationalities were represented among the participants. Read more
DMD: start at I-Motion of trials with pamrevlumab in ambulatory and non-ambulatory patients I-Motion is recruiting patients with Duchenne muscular dystrophy to participate in two pharmacological trials designed to test an antifibrotic monoclonal antibody, pamrevlumab developed by FibroGen. Read more
Interview with France Pietri-Rouxel on a French radio France Pietri-Rouxel, who was the guest of Sidonie Bonnec in the radio programme “Minute Papillon” on the French radio station France Bleu on June 3, answered many questions around muscle and its study. Read more
Appointment of Piera Smeriglio at the head of BOND group Piera Smeriglio will take over the management of the BOND Group – Biotherapies for motor neuron disorders (ALS & SMA) following the upcoming departure of Maria Grazia Biferi to whom we send our best wishes and whom we warmly thank for the work she has done with her group within the framework of the Myology Centre For Research. Read more
Upcoming M&M's – Muscle Monday Seminars &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 from September 2021: Adam J. Engler, Charlotte A. Peterson, Stephen D.R. Harridge. Read more
Our latest news
A single injection of a promising double gene therapy in a OPMD mouse model Promising results for a gene therapy that administers, in a single intramuscular injection, a double sequence that "switches off and replaces" the mutated PABPN1 gene. This product, BB-301, administered to mice models of OPMD, restored muscle weight and strength. Read more
A new form of muscular dystrophy identified using high throughput sequencing There are still many cases of orphan hereditary neuromuscular diseases. This results in diagnostic error that is often harmful to the care of the patient himself/herself, but also to the family (genetic consultation). Read more
Muscle imaging is useful in the diagnosis and follow-up of most autoimmune myositis Idiopathic inflammatory myopathies constitute a heterogeneous group of muscular diseases. Their diagnosis is based, according to recent international recommendations, on muscle biopsy data and specific auto-antibody assays Read more
Clinical and genetic study of 1,000 patients with CIDP reveals 35 cases of misdiagnosed CMT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) diagnosis is mainly based on the clinical examination and the electromyogram. CIDP is sometimes confused with another demyelinating neuropathy, type 1 Charcot-Marie-Tooth disease. Read more
High phenotypic diversity in patients with CMT linked to a mutation in the MPZ gene? Hereditary sensory-motor neuropathies type Charcot-Marie-Tooth (or CMT) are clinically and genetically heterogeneous pathologies. Almost 110 genes, inherited on autosomal dominant or recessive or X-linked dominant mode, are responsible, whether they are demyelinating forms (CMT1) or axonal forms (CMT2). Read more
More breaking news
A good record for the longest follow-up to date of Zolgensma in SMA After obtaining positive results on the motor development of 15 infants with type I SMA, aged less than 6 months and symptomatic during the first gene therapy trial lasting two years (START study), Zolgensma (onasemnogene abeparvovec) will be evaluated over the next 15 years (START long-term follow-up study). Read more
Systemic injection of an optimized antisense oligonucleotide into an FSH mouse model appears to be effective In FSH, the DUX4 gene is abnormally expressed in the muscles. In an effort to inhibit DUX4, Canadian researchers have optimized antisense oligonucleotides by coupling them to a peptide that favors their penetration into muscle cells. Read more
Spinal Muscular Atrophy SMA: results of a large-scale survey of newborn screening around the world The attitudes and expectations of patients with SMA are changing with regard to innovative therapies SMA: A very useful compilation of medico-economic studies Hydrocephalus and SMA : an american study tends to show nusinersen is not involved Nusinersen perceptions and expectations in German adults with SMA A study of genotype/phenotype discordance in the SMAs is very informative
Duchenne Muscular Dystrophy DMD : a robust production of dystrophin, 3 months after administration of SRP-9001 in 11 patients (phase I clinical trial) A retrospective study from Nantes University Hospital characterizes severe cardiac involvement in women transmitting DMD Significant association between nutritional status and respiratory status Strengthening exercise can be beneficial for DMD patients in the medium term Tamoxifen is well tolerated in DMD and has a modest impact on motor function and breathing: results of a phase 1, open-label clinical trial in Israel Treatment with eteplirsen over a 2-year period shows a beneficial action on walking and breathing in patients with DMD: results of the phase III PROMOVI trial
Charcot-Marie-Tooth Disease CMT : when the NGS comes to both simplify and complicate things CADM3: a gene coding a cell adhesion protein involved in a new form of axonal CMT
Inflammatory Myopathies A case of autoimmune necrotizing myopathy possibly linked to Covid-19 Hydrophilic statins as toxic to muscle as lipophils
Basic research and other disorders Systemic injection of an optimized antisense oligonucleotide into an FSH mouse model appears to be effective A minimum of two and a half hours of exercise per week would be beneficial in Myasthenia gravis DM1 and non-invasive home ventilation: does compliance with treatment influence mortality? Domagrozumab (PF-06252616) is not more efficacious than FKRP-related LGMDR9 Pompe disease: a meta-analysis confirms the benefits of enzyme therapy in late-onset forms, but with more impact on walking than on breathing or muscle strength Buprenorphine: a therapeutic alternative in paramyotonia congenita? A new form of mixed neuromuscular disease identified using molecular biology Completely and spontaneously reversible mitochondrial myopathy: an extremely rare case Towards a broadening of the phenotype spectrum of the NOTCH2NL gene mutation
In brief
FSHD: a new european network for clinical trials The aim of this network is to connect European clinicians involved in FSH, to facilitate the setting up of future clinical trials and to make future treatments more accessible. Read more
An overview of non-invasive ventilation in children with NMD A significant number of neuromuscular diseases, foremost among them spinal muscular atrophy, Duchenne muscular dystrophy and certain congenital myopathies, are accompanied by restrictive respiratory disorders. Read more
Job opportunities The Myology Centre for Research of the Institute is offers a postdoctoral position in molecular mechanisms involved in SMA and a postdoctoral position in Gene therapy for ALS. Read more

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Legal 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.