Supported projects

N202001 – Circulating cell-free SMN RNAs as therapeutic monitoring biomarker in spinal muscular atrophy

Scientific leader
Dr. Judith Melki

Muscular atrophies are diseases characterized by degeneration of spinal motor neurons. This autosomal recessive disorder is caused by mutations in the SMN1 gene. Different therapeutic strategies have been developed: one of the therapeutic approaches aims to reduce the skipping of exon 7 of SMN2 which remains present in patients but which transcripts differ from those of SMN1 by an alternative splicing of exon 7 using antisense oligonucleotides. The other approach is gene therapy using the vector scAAV9 and the cDNA of SMN1. The quantification of circulating cell-free SMN1 RNAs in the serum that we have developed, now makes possible to determine whether this in vivo quantification can serve as a biomarker for monitoring patients treated by gene therapy: correlation between this biomarker and clinical parameters.



Team Human genomic UMR-1195, Inserm et Université Paris Saclay

80 rue du Général Leclerc

94 276 Le Kremlin-Bicêtre