1 results match your criteria: "500 Warren Corporate Center Drive[Affiliation]"
Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.
Mol Ther
October 2024
PTC Therapeutics, Inc, 500 Warren Corporate Center Drive, Warren, NJ 07059, USA. Electronic address:
Article Synopsis
- - CDD is a rare neurodevelopmental disorder linked to mutations in the CDKL5 gene, leading to symptoms like epilepsy, muscle weakness, and developmental delays.
- - Researchers created a gene therapy vector, AAV9.Syn.hCDKL5, to deliver the CDKL5 gene to the brain, using a specific promoter to enhance gene expression.
- - Studies in mice showed that injecting the vector directly into the cerebrospinal fluid improved distribution and resulted in biological activity, with successful functional improvements observed at higher doses.