Myology 2016 – Day 4: Focus on therapeutics on trial

The fourth day of Myology 2016, organised by AFM-Téléthon, opened on a plenary session dedicated to the different myology-related advances. H. Lee Sweeney from the University of Florida (USA), co-chairman of the congress, overviewed the trials using oligonucleotides in Duchenne muscular dystrophy. He underlined the need, for demonstrating the efficiency of products currently under clinical researches, to improve the homogeneity of included patients, the selection of evaluation criteria, as well as the tools and the biomarkers used. Throughout this session, Ana Buj-Bello from Genethon (Evry, France) presented her work on gene therapy for X-linked myotubular myopathy (XLMTM) which have proved effective after only one injection in the dog model of the disease, followed by a quick and long-termed recovery (3-year hindsight), also when the disease is established.

During the afternoon session, called “SMA and therapeutics”, Richard Finkel from Philadelphia (USA) and Jerry Mendell from Colombus (USA) presented the results of ongoing trials in spinal muscular atrophy type 1 (SMA1), the most severe form of the disease, involving a vital prognosis of under 2 years. Two therapeutic strategies are being tested: an antisense oligonucleotide product by Ionis Pharmaceutical and a gene therapy product from Avexis. The two American researchers showed outstanding videos of motor skills acquired by the treated babies: tonus, head holding, sitting position, standing position… Those preliminary results require to be confirmed, but mark the arrival of advanced therapies for spinal muscular atrophy.