Spinal muscular atrophies (SMA) are a group of diseases characterized by motor neuron degeneration. SMA is the most common fatal autosomal recessive disease after cystic fibrosis. SMA is caused mutations of SMN1. Several therapeutic strategies have been set up. A critical target is SMN2, a highly homologous gene of SMN1, through a reduction of exon 7 skipping of SMN2 transcripts.
Very convincing clinical results have been reported by using antisense oligonucleotides (ASO). The main goal of our project is to establish a correlation between the use of ASO and the reduction of SMN2 exon 7 skipping by using a non invasive and quantitative approach.
DIM Thérapie Génique, Inserm