Developing gene therapy vector for the treatment of creatine transporter deficiency syndrome
Ludovica Iovino, Federica Di Vetta, Lorenzo Dadà, Caterina Montani, Elsa Ghirardini, Francesco Calugi, Giulia Sagona, Tommaso Pizzorusso, Alessandro Gozzi, Laura Baroncelli · FENS Forum 2024
Creatine Transporter Deficiency (CTD) is a rare X-linked disorder caused by loss-of-function of the SLC6A8 gene. CTD clinical manifestation follows brain creatine (Cr) deficiency and predominantly leads to neurological symptoms such as intellectual disability, language disturbance, psycho-motor impairment, autistic-like behavior, and seizures. We used a murine model to probe whether perinatal adeno-associated virus (AAV)-mediated expression of a functional SLC6A8 transgene under the control of a ubiquitous promoter could restore creatine transporter (CRT) expression and brain Cr level, thus pr
ePoster · Neuroscience