Review of the 23rd International Congress of the World Muscle Society

The lastest International Congress of the World Muscle Society was held in Mendoza, Argentina from 2-6 October 2018.

Fundamental progress
Gathering several hundred researchers, doctors and industrialists from all over the world, this year was particularly devoted to abnormalities of the neuromuscular junction (such as in autoimmune myasthenia gravis or congenital myasthenic syndromes …). There was an update on new genes involved in congenital myasthenic syndromes as well as the best treatments for these diseases.
The role of mitochondria and their dysfunction in mitochondrial diseases were the topic of several presentations, highlighting advances both in terms of basic and preclinical research (role of mitochondria, therapeutic approaches…) and clinical research (description of clinical manifestations …).

Innovative trial results
Each year, a session focuses on advances in treatments for neuromuscular disorders. This provided the opportunity to share preliminary results, as oral presentations or posters, of clinical trials in neuromuscular diseases:

In SMN1-related proximal spinal muscular atrophy (SMA)

  • Nusinersen/Spinraza (Biogen): Intermediate results from the NURTURE trial performed in 25 pre-symptomatic newborns, less than 6 weeks of age at the start of treatment and 14 months at the time of analysis, showed improvement in motor function in participants treated with nusinersen, without the need of respiratory assistance. Twenty-two of the 25 participants (88%) were able to walk.
  • Risdiplam / RG7913 (PTC Therapeutics / Roche / SMA Foundation): Preliminary results from part 1 of the SUNFISH and FIREFISH trials demonstrated improvement in motor function in Type 1, 2 and 3 SMA, without side effects


In Duchenne muscular dystrophy (DMD)

  • Micro-dystrophin gene therapy product (Sarepta): Positive results from this gene therapy trial were presented by J. Mendell (Columbus, USA); they highlighted strong dystrophin expression in the biopsies of the first 4 participants in this trial. Functional improvements were also mentioned, with no side effects.

In myotubular myopathy

  • Gene therapy product encoding the myotubularin gene (Audentes): Intermediate results of this gene therapy trial, (the product was developed at Genethon) concerning the first 8 children who were treated, showed an improvement in muscle function, respiratory function and the overall condition of the participants.

 

The next International Congress of the World Muscle Society will be held from 1-5 October 2019, in Copenhagen, Denmark.