In the field of innovative therapies for neuromuscular diseases, having access to a model, whether cell or animal, for a given disease is a major benefit. These models make it possible to test several therapeutic hypotheses on a large scale, and are usually a prerequisite to starting human trials. Since animal models are rare in a natural state and are more complex to study, cell models are very commonly used. The development of somatic stem cells that are taken from the skin of patients and are reprogrammable, known as iPSCs (induced pluripotent stem cells), is truly revolutionary for researchers. They make it possible to recreate, in vitro, the conditions of the neuromuscular disease being studied.
In an article published in April 2021, a team of researchers at the Institute of Myology (Paris) reviewed the practical applications of such models, in particular in Duchenne muscular dystrophy (DMD) and amyotrophic lateral sclerosis (ALS). In DMD, iPSCs reprogrammed into myoblasts have been widely used in the development of exon skipping therapies using antisense oligonucleotides. In ALS, a similar approach has been tested on iPSCs reprogrammed into motor neurons. The authors emphasise current developments in the area of viral vector-based gene therapy. For the purpose of optimising iPSC transduction, the vector serotype, viral concentration and transfection timing must be taken into account.