Actively Recruiting

Age: 6Months +
FEMALE
NCT05740761

Gene Editing as a Therapeutic Approach for Rett Syndrome

Led by University of Siena · Updated on 2025-08-20

40

Participants Needed

1

Research Sites

260 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

Gene Editing as a Therapeutic Approach for Rett Syndrome

Who Can Participate

Age: 6Months +
FEMALE

Eligibility Criteria

Eligible

You may qualify if you...

  • Female patients diagnosed with Rett Syndrome confirmed genetically by NGS with one of these MECP2 mutations: c.473C>T (p.T158M), c.502C>T (p.R168X), c.763C>T (p.R255X), or c.916C>T (p.R306C)
  • Age above 6 months
  • Parents or legal guardians able to provide informed consent for participation
Not Eligible

You will not qualify if you...

  • NGS diagnosis showing normal MECP2 gene sequence
  • Presence of MECP2 mutation different from those studied
  • Parents or legal guardians unwilling to provide informed consent for participation

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

University of Siena

Siena, Siena, Italy, 53100

Actively Recruiting

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Research Team

I

Ilaria Meloni, BS.PhD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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