Blog Archives
Release of the 65th newsletter from the Institute
Welcome to the 65th issue of our newsletter! The Telethon 2017 ended on a counter of more than 75 million euros. A falling number that finds its major explanation in the attention naturally paid to the funeral of Johnny Hallyday, an extremely popular French singer. Thank you to all those who contributed and participated. … [Read more]
Potential of eteplirsen in preserving respiratory function in patients with DMD
Duchenne muscular dystrophy (DMD) is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. 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 … [Read more]
Diagnosis and management of spinal muscular atrophy: updated recommendations
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been … [Read more]
Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in TYMP, the gene encoding the enzyme thymidine phosphorylase (TP). TP dysfunction results in systemic accumulation of the noxious TP substrates thymidine and deoxyuridine. Gene therapy using either a lentiviral vector or adeno-associated vector (AAV) has proven to be a feasible strategy, as both vectors restore … [Read more]
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8-100 units. The D4Z4 repeat has heterochromatic features and does not express DUX4 in somatic cells. Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression resulting in the … [Read more]
Effect of aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy associated with impaired walking capacity. Some patients are too weak in the lower extremity muscles to walk at gravity with sufficient intensity or duration to gain benefit. The aim of this pilot study was to investigate the effect of aerobic anti-gravity exercise in weak patients with CMT … [Read more]
Recent recruitments of patients at I-Motion
In Italpharmaco trial (Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With DMD), first three patients have been screened last days (January 15th, 22nd and 26th, 2018), that is they are included in the selection part of the study. Thereafter, if these patients are eligible, they will be randomized to placebo … [Read more]
Achievements and perspectives – An interview with Marianne Perreau-Saussine
Marianne Perreau-Saussine, General Secretary of the Institute of Myology, highlights the main achievements of the institute during 2017 and outlines the perspectives for 2018. What were the main achievements of the Institute of Myology in 2017? Amongst all of our achievements, and for the organisation of research, I would say the arrival of Bertrand Fontaine, … [Read more]
History and current difficulties in classifying inherited myopathies and muscular dystrophies
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. The proposal presented herein ise limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies). … [Read more]
Major European grant for research into rare diseases: Pooling resources for diagnostics of the future
A large consortium led by the University of Tübingen, the Radboud university medical center Nijmegen and the University of Leicester and including in France Eurordis, Orphanet, two major research institutes (Centre de Recherche en Myologie and Institut du Cerveau et de la Moelle épinière) and the Dijon University Hospital, has acquired a € 15 million … [Read more]
