Myology research highlights

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]

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]

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]

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]

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]

Zolgensma®, initially developed by AveXis (subsequently acquired by Novartis) has just received a positive opinion in SMA by the by the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA). The CHMP recommends a conditional marketing authorization which should only concern “babies and young children”: suffering from proximal spinal muscular … [Read more]

Autoimmune myasthenia gravis (MG), a dysimmunity disorder of the neuromuscular junction, begins in 60% of cases in an adult before the age of 40, that is, in full “active life”. So what is its impact on the possibility of exercising a professional activity? Two publications provide answers: MG would reduce the employment rate by 15 … [Read more]

Losmapimod is a p38 MAP kinase inhibitor, which has already shown good tolerance in several diseases (myocardial infarction, chronic obstructive pulmonary disease, etc.). In FSH, encouraging results in vitro and in vivo showing that losmapimod reduces the expression of the DUX4 gene have confirmed the launch of clinical trials by the company Fulcrum Therapeutics. The … [Read more]

Spinal muscular atrophy, lower extremity-predominant type 2, or SMALED2 is a rare form of proximal spinal muscular atrophy. It usually progresses more slowly than SMA.  Two forms can be found: SMALED 2A, the classic form of the disease, begins in childhood and evolves very slowly, and SMALED 2B, more severe, whose first manifestations appear in … [Read more]

The Japanese laboratory Shinyaku Co. Ltd announced on March 25, 2020 by press release the commercial approval in Japan of its antisense oligonucleotide targeting exon-skipping of exon 53 of the dystrophin gene (DMD gene), viltolarsen (NS- 065 / NCNP-01- Viltepso), in Duchenne muscular dystrophy. Viltolarsen 250 mg is given by intravenous injection, once a week, … [Read more]