NCT05740761

Gene Editing as a Therapeutic Approach for Rett Syndrome

Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 40 (estimated)
• Sponsor: University of Siena · Academic / Other
• Sex: Female
• Age: 6 Months
• Healthy volunteers: Not accepted

Summary

We designed the project to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.

Detailed description

The project aims to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo. The laboratory of the principal investigator is an active member of the European Reference Network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders (ERN-ITHACA).

Conditions

• Rett Syndrome

Interventions

Type	Name	Description
OTHER	Gene editing in vitro	Testing of gene editing efficiency in vitro in human cellular models derived from patients

Timeline

• Start date: 2021-03-01
• Primary completion: 2025-11-01
• Completion: 2026-03-01
• First posted: 2023-02-23
• Last updated: 2025-08-20

Locations

1 site across 1 country: Italy