This webinar will discuss the use of digital spatial profiling to test a gene therapy for CDKL5 deficiency disorder (CDD), a rare X-linked neurodevelopmental disease that causes severe seizures, global developmental delay, and limits a patient’s ability to communicate.
Maggie Wright of Ultragenyx Pharmaceutical will outline her team’s approach to testing a gene therapy in a mouse model of CDD:
- Adolescent CDKL5-/Y and CDKL5-/+ mice were administered the gene therapy AAV9-SYN-hCDKL5 via the intracerebral ventricular space
- Distribution of the vector-derived hCDKL5 mRNA was assayed in the brain of these mice via RNAScope
- Behavioral phenotypes of these treated mice were tested to determine efficacy of the treatment