Personalized MECP2 Gene Therapy Using CRISPR/Cas9 with AAV Delivery in Cell Cultures and Mice for Rett Syndrome

What this Trial Is About

This research aims to validate the use of CRISPR/Cas9 gene editing combined with AAV-based delivery to correct the most common MECP2 gene mutations associated with Rett syndrome. The project focuses on both laboratory cell models and live animal models to better understand this personalized gene therapy approach. The principal investigator's lab is part of a European network specializing in rare intellectual and neurodevelopmental disorders. The study involves testing gene editing efficiency in human cell cultures derived from female patients diagnosed with Rett syndrome who have specific recurrent MECP2 mutations. The gene editing is conducted in vitro using these cellular models to observe correction potential. This approach is observed over a period to assess both editing efficiency and specificity. Participants are female patients aged over 6 months with genetically confirmed Rett syndrome involving particular MECP2 mutations. Parents or legal guardians provide informed consent for participation. Researchers monitor gene editing outcomes such as efficiency and specificity over a three-year timeframe. The study does not involve treatment administration but focuses on laboratory validation of gene editing techniques.

Gene Editing as a Therapeutic Approach for Rett Syndrome