Prenatal therapy corrects genetic defects in fetuses

Corrects genetic defects in fetuses already during pregnancy the experimental procedure for the administration of gene therapies in the uterus developed by University of Milan and IRCCS Institute Foundation Neurological Carlo Besta, in collaboration with the Polyclinic of Milan and Avantea in Cremona. The results of the study, published in the journal Gene Therapy of the Nature group, open the road to prenatal interventions for genetic diseases more serious congenital ones. The minimally invasive procedure uses a technique already in use in clinical practice, ultrasound-guided injection transabdominal. Applied to pigs — animals selected for their close physiological similarity to humans — this procedure has permission to administer a viral vector (AAV9) containing a marker gene (GFP) directly to the fetus, through the vein umbilical or the heart. Pigs born after the procedure showed a wide distribution of the therapeutic gene in different organs, without significant side effects or signs of inflammation. The mothers also tolerated the intervention well, without complications. This model can then be used to test new therapies in rare and devastating diseases such as mitochondrial diseases and other multisystem pathologies that they begin already during intrauterine life. The IRCCS Ca' Foundation also participated in the study. Granda Ospedale Maggiore Policlinico, University of Verona and UCL London School of Pharmacy. The project was supported by from the Regional Foundation for Biomedical Research, Foundation Telethon, the Mariani Foundation, the European EJP RD programme and the PNRR.