Gene editing to correct common MECP2 mutations in Rett syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The project aims to validate CRISPR/Cas9-based gene editing combined with AAV delivery to correct recurrent MECP2 mutations associated with Rett syndrome. Work includes in vitro experiments and in vivo validation in preclinical models. The research focuses on the most frequent MECP2 hotspot mutations and is conducted by a laboratory that is part of the European Reference Network ERN-ITHACA. The protocol is observational for patient-derived samples and experimental for laboratory and animal phases.

Why it matters

Who can join: the full rules

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;

Where it's running

• University of Siena
  Siena, Siena, Italy Recruiting

Study contacts

• Study coordinator: Ilaria Meloni, BS.PhD
• Email: ilaria.meloni@dbm.unisi.it
• Phone: +390577233259

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Efficacy of Bionetide for treating Rett syndrome in females

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• Assessing cognitive function in Rett syndrome patients receiving trofinetide treatment

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• Identifying biomarkers in Rett Syndrome

  This study is trying to find specific brain signals in girls with Rett Syndrome to see how they differ from girls without the condition and how these signals relate to the severity of their symptoms over time.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.