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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05740761

Acronym

MECPer-3D

Enrollment

Registered

2023-02-23

Start date

2021-03-01

Completion date

2026-03-01

Last updated

2025-08-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Rett Syndrome

Brief 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).

Interventions

OTHERGene editing in vitro

Testing of gene editing efficiency in vitro in human cellular models derived from patients

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

6 Months to No maximum

Healthy volunteers

Inclusion criteria

* Patients -exclusively female- since the pathology is linked to the X chromosome, with a clinical diagnosis of Rett syndrome confirmed at the genetic level by the identification, through NGS analysis, for one of the recurrent mutations (mutational hotspots) in the MECP2 gene object of the study: c. 473C\>T - (p.(T158M)), c.502C\>T (p(R168X)), c.763C\>T (p.(R255X)), c.916C\>T (p.(R306C)); * Age above 6 months; * Availability of parents or legal guardians to provide free and informed consent to participate in the study

Exclusion criteria

* NGS diagnosis with the normal outcome; * Positive NGS diagnosis for mutation in MECP2 but with the presence of a mutation different from those under study. * Unwillingness of parents or legal guardians to provide free and informed consent to participate in the study;

Design outcomes

Primary

Measure	Time frame	Description
Editing efficiency	3 years	Percentage of gene editing achieved for each mutation

Secondary

Measure	Time frame	Description
Editing specificity	3 years	Evaluation of off-targets

Countries

Italy

Contacts

Primary ContactIlaria Meloni, BS.PhD

ilaria.meloni@dbm.unisi.it+390577233259

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026