Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice

What is MECPer-3D

MECPer-3D is an International project born in Siena. It is a pre-clinical study focused on Rett syndrome (RTT). The main purpose of the project is the validation of gene therapy, in the form of CRISPR/Cas9-based gene editing, as an innovative treatment for the Syndrome.

MECPer-3D Objectives

The project will provide a proof-of concept of the efficacy and safety of gene editing for the correction of MECP2 mutations, paving the way toward the clinical application of this approach for the treatment of RTT.  Specifically, project objectives are:

The expertise of MECPer-3D consortium 

The consortium brings together 5 groups with complementary expertise and AIRETT association. Their concerted efforts will allow gaining a comprehensive view of the relevance of AAV-CRISPR/Cas9 therapy for RTT, by testing efficiency and specificity in relevant human and mouse models. 

Collaborate and Contact

The MECPer-3D project is a pre-clinical study whose main purpose is to validate gene editing as a therapeutic approach in patient cells and animal models. For this purpose it is essential to have a statistically significant number of samples.

In particular, two types of samples are required: a peripheral blood sample and a skin biopsy from which lymphocytes and fibroblasts will be obtained, respectively. Lymphocytes are used to generate iPSCs essential for differentiation into neurons, the cellular model of primary interest for the project. Fibroblasts are used to validate the in vitro correction system and to perform further functional analyses.
The reference contacts for Italian and foreign families, hospitals and research groups are: