NCT05740761 Gene Editing as a Therapeutic Approach for Rett Syndrome
| NCT ID | NCT05740761 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Siena |
| Condition | Rett Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 40 participants |
| Start Date | 2021-03-01 |
| Primary Completion | 2025-11-01 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 40 participants in total. It began in 2021-03-01 with a primary completion date of 2025-11-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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;
Contact & Investigator
Frequently Asked Questions
Who can join the NCT05740761 clinical trial?
This trial is open to female participants only, aged 6 Months or older, studying Rett Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05740761 currently recruiting?
Yes, NCT05740761 is actively recruiting participants. Contact the research team at ilaria.meloni@dbm.unisi.it for enrollment information.
Where is the NCT05740761 trial being conducted?
This trial is being conducted at Siena, Italy.
Who is sponsoring the NCT05740761 clinical trial?
NCT05740761 is sponsored by University of Siena. The trial plans to enroll 40 participants.