Gene Editing as a Therapeutic Approach for Rett Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-01

Study Completion Date

2026-03-01

Brief Summary

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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.

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Detailed Description

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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

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Rett Syndrome

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Interventions

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Gene editing in vitro

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

Intervention Type OTHER

Eligibility Criteria

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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;

Minimum Eligible Age

6 Months

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No