Gene Editing as a Therapeutic Approach for Rett Syndrome

Plain-language summary

This study investigates gene editing in the laboratory (in vitro) as a potential therapeutic approach for Rett syndrome. It enrolls female patients older than 6 months who have a genetically confirmed diagnosis of Rett syndrome with certain recurrent mutations in the MECP2 gene. It is a trial without an assigned phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

University of Siena

Intervention

Gene editing in vitro

Start date

3/1/2021

Estimated completion

3/1/2026

Countries

Italy

Related genes

Locations

• Siena, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine 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;