Gene Editing as a Therapeutic Approach for Rett Syndrome

Rett Syndrome Clinical Trial

— MECPer-3D  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05740761
• Other study ID #: MECPer-3D
• Status: Recruiting
• Start date: March 1, 2021
• Est. completion date: March 1, 2024

Study information

• Verified date: January 2023
• Source: University of Siena
• Contact: Ilaria Meloni, BS.PhD
• Phone: +390577233259
• Email: ilaria.meloni[@]dbm.unisi.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 40
• Est. completion date: March 1, 2024
• Est. primary completion date: March 1, 2022
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 6 Months and older

Eligibility

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;

Related Conditions & MeSH terms

• Rett Syndrome
• Syndrome

Intervention

Other:
• Gene editing in vitro
Testing of gene editing efficiency in vitro in human cellular models derived from patients

Locations

Country	Name	City	State
Italy	University of Siena	Siena

Sponsors (1)

Lead Sponsor	Collaborator
University of Siena

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Editing efficiency	Percentage of gene editing achieved for each mutation	3 years
Secondary	Editing specificity	Evaluation of off-targets	3 years

External Links

•   Related Info