Gene Editing as a Therapeutic Approach for Rett Syndrome

NCT05740761 | Recruiting

• 1 other identifier: MECPer-3D
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Rett Syndrome

Outcome Measures

Primary Outcomes (1)

• Editing efficiency

  Percentage of gene editing achieved for each mutation

  3 years

Secondary Outcomes (1)

• Editing specificity

  3 years

Interventions

Gene editing in vitro OTHER

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

Eligibility Criteria

• Age: 6 Months+
• Gender Eligibility Details: Rett Syndrome affects almost exclusively females
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients affected by Rett syndrome with one of the four hotspots mutations in MECP2 gene: p.T158M, p.R255X, p.R168X, p.R306C

You may qualify if:

• 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

You may not qualify if:

• 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;

Sponsors & Collaborators

• University of Siena: lead

Study Sites (1)

University of Siena

Siena, Siena, 53100, Italy

RECRUITING

MeSH Terms

Conditions

Rett Syndrome

Interventions

Gene Editing; In Vitro Techniques

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

Genetic Engineering; Genetic Techniques; Investigative Techniques

Central Study Contacts

Ilaria Meloni, BS.PhD

CONTACT

+390577233259; ilaria.meloni@dbm.unisi.it

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate professor

Study Record Dates

• First Submitted: February 13, 2023
• First Posted: February 23, 2023
• Study Start: March 1, 2021
• Primary Completion: November 1, 2025
• Study Completion: March 1, 2026
• Last Updated: August 20, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)