Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency.

ABSTRACT: CDKL5 Deficiency Disorder (CDD) is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 gene, resulting in early-onset seizures, developmental delays, and cognitive and sensorimotor impairments. While emerging therapies show promise, substantial challenges remain in developing a cure for CDD. In our prior work, we developed an innovative gene therapy strategy based on an Igk-TATk-CDKL5 fusion protein, which enhances brain distribution of the therapeutic protein, significantly improving treatment efficacy in a Cdkl5 knockout male mouse model. However, CDKL5 dosage sensitivity may pose challenges in patients with mosaic loss of CDKL5 function, potentially limiting the treatment's effectiveness or even exacerbating clinical symptoms. In this study, we aimed to addres

SUBMITTER: Medici G 

PROVIDER: S-EPMC12664459 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature