Gene Editing as a Therapeutic Approach for Rett Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Gene editing in vitro.
- Who it may be relevant to
- Registry conditions: Rett Syndrome. Basic parameters: from 6 months · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice
Overview
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
- Other Gene editing in vitro
Testing of gene editing efficiency in vitro in human cellular models derived from patients
Primary outcome measures
- Editing efficiency [Time frame: 3 years]
Secondary outcome measures (1)
- Editing specificity [Time frame: 3 years]
Eligibility criteria
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;
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Italy · 1 center
- University of Siena — Siena
Identifiers
NCT: NCT05740761 · MECPer-3D