Myology research highlights

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]

Dutch and American resarchers have published an update to October 2018 of two Cochrane reviews concerning clinical trials of treatments able to stop or slow the progression of SMA type I, II or III. Previous editions (in 2009 and 2011) had not highlighted effective treatments in SMA; since then, nusinersen has been tested and has … [Read more]

For obvious reasons related to the covid-19 outbreak, the organizers of the Summer School of Myology, scheduled for next June in Paris, have decided to postpone its holding to better days, perhaps until next fall. The Summer School of Myology is organized each year in Paris by the Institute of Myology. Lasting 8 days, it … [Read more]

Many patients with generalized myasthenia gravis (gMG) have substantial clinical disability, persistent disease burden, and adverse effects attributable to chronic immunosuppression. Therefore, there is a significant need for targeted, well-tolerated therapies with the potential to improve disease control and enhance quality of life. The aim of this study was to evaluate the clinical effects of … [Read more]

Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The authors examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group … [Read more]

Aldehyde dehydrogenases (ALDHs) are key players in cell survival, protection, and differentiation via the metabolism and detoxification of aldehydes. ALDH activity is also a marker of stem cells. The skeletal muscle contains populations of ALDH-positive cells amenable to use in cell therapy, whose distribution, persistence in aging, and modifications in myopathic context have not been … [Read more]

The objective of this study (NCT02310906) was to report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Part 1 was a randomized, double-blind, placebo-controlled, 12-week dose titration of once-weekly golodirsen; part 2 is an ongoing, open-label evaluation. Safety and pharmacokinetics were primary … [Read more]