Blog Archives
MG in patients with very-late-onset: about a Spanish study
The objective of this study was to describe the characteristics of patients with very-late-onset myasthenia gravis (MG). This observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all … [Read more]
Myopathy related to LMOD3 gene: when fingerprints and rods coexist
Fingerprint bodies are observed in a variety of clinical situations with no definite genetic cause identified so far. The French clinicians report for the first time the association of fingerprint bodies with rods in a patient who developed a slowly progressive myopathy affecting the face and limb extremities. Ultrastructural examination first disclosed fingerprint bodies and … [Read more]
CMT: for a multidimensional approach to the functional impact of hand involvement
Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary neuropathies. It causes a sensory-motor deficit of variable gravity, generally evolving very slowly over time. Very heterogeneous from a clinical and electrophysiological point of view, but also genetic (nearly 90 CMT genes, all forms combined, have been identified so far), CMT causes distal motor deficit … [Read more]
DMD: a third of deaths are thought to be of cardiac origin
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in boys. It is linked to the genetically determined absence of the dystrophin, a major muscle fiber protein. DMD causes progressive motor deficit predominant in the root muscles and then spreads to the respiratory muscles and the heart, all together leading to premature death. With … [Read more]
DMD: a team from the Institute is developing a combined classic exon skipping–gene therapy approach
Among the different therapeutic approaches developed for Duchenne muscular dystrophy, several exon skipping techniques are being studied, in particular the antisense oligonucleotides and AAV-U7 gene therapy. The France Piétri-Rouxel team (Sorbonne University – INSERM/Institute of Myology) has just published, in the Molecular Therapy review, results demonstrating the benefit of combining these to optimise the exon … [Read more]
SMA and scoliosis surgery: a negative impact on HFMSE score
Spinal muscular atrophy (SMA) is the second genetically determined cause of childhood neuromuscular disease. There are three types of increasing severity (type I, II and III) depending on the age of onset and the maximum motor abilities acquired. Orthopedic and respiratory complications make the disease very serious, especially in the earliest and therefore the most … [Read more]
COVID-19 and clinical research: 4 questions for Prof. Olivier Benveniste
Interview with Prof. Olivier Benveniste, Director of research Team 8, “Inflammatory myopathies and innovative targeted therapies“, at the Institute’s Centre for Myology Research, University Professor – Hospital Practitioner at the Department of Internal Medicine and Clinical Immunology (the DMIIC) at the Pitié-Salpêtrière Hospital, Coordinator for the French National Myositis Network. If you could provide some … [Read more]
Histone deacetylase inhibitors in CMT2A
Charcot-Marie-Tooth type 2A (CMT2A) peripheral neuropathy, the most common axonal form of CMT, is caused by dominantly inherited point mutations in the Mitofusin 2 (Mfn2) gene. It is characterized by progressive length-dependent degeneration of motor and sensory nerves with corresponding clinical features of motor and sensory impairment. There is no cure for CMT, and therapeutic … [Read more]
SMA : start of DEVOTE clinical trial in the US
The DEVOTE trial is a phase II / III randomized, controlled, dose escalation trial that aims to assess the tolerance and efficacy of a higher dose of nusinersen (Spinraza®) in SMA than the one currently used. It will take place in nearly 50 countries, including in France. Biogen announced in a press release dated April … [Read more]
Proof of concept of a plasmapheresis specifically filtering AAVs
Neutralizing antibodies directed against adeno-associated virus (AAV) are commonly found in humans. In seropositive subjects, vector administration is not feasible as antibodies neutralize AAV vectors even at low titers. Consequently, a relatively large proportion of humans is excluded from enrollment in clinical trials and, similarly, vector redosing is not feasible because of development of high-titer … [Read more]
