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RecruitingNCT05740761MECPer-3DUpdated Aug 20, 2025

Gene Editing as a Therapeutic Approach for Rett Syndrome

An observational study in Rett Syndrome, sponsored by University of Siena. Recruiting at 1 site in Italy. Open to female participants aged 6 Months and older. Per ClinicalTrials.gov, last updated 2025-08-20.

Sponsored by University of Siena · Observational

From the registry’s dates

  • Primary completion was expected by Nov 2025, 1 year ago, but the record still lists the study as recruiting.
  • Started Mar 2021; still recruiting 5 years 8 months later.
Study type
Observational
Model
Other
Time perspective
Prospective
Enrollment
40
Ages
6 Months and older
Sex
Female
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Study 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.

Read the detailed description

The project aims 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. The laboratory of the principal investigator is an active member of the European Reference Network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders (ERN-ITHACA).

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Conditions studied

  • Rett Syndrome

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03

In context

Rett Syndrome

96 studies on the registry are indexed under Rett Syndrome; 19 are open to participants now.

This study's planned enrollment of 40 is below the median of 100 across 29 observational studies indexed under Rett Syndrome.

Browse Rett Syndrome studies →

Lead sponsor

University of Siena is the lead sponsor of 65 studies on the registry; 15 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
6 Months and older
Sexes eligible
Female
Accepts healthy volunteers
No
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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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 to participate in the study

Exclusion criteria

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 to participate in the study;
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

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Study design

Observational model
Other
Time perspective
Prospective
Enrollment
40 participants (estimated)
Patient registry
No

Interventions

  • OtherGene editing in vitro

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

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What researchers measure

Primary outcomes

  1. Editing efficiency

    Percentage of gene editing achieved for each mutation

    Time frame: 3 years

Secondary outcomes

  1. Editing specificity

    Evaluation of off-targets

    Time frame: 3 years

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Study locations

1 of 1 sites recruiting
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References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

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Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Mar 2021 (actual). Primary completion is estimated for Nov 2025, 56 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Feb 13, 2023
First posted
Feb 23, 2023
StartActual
Mar 1, 2021
Primary completionEst.
Nov 1, 2025
CompletionEst.
Mar 1, 2026
Last update
Aug 20, 2025
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Aug 20, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT05740761
Lead sponsor
University of Siena
Responsible party
Ilaria Meloni (Associate professor, University of Siena) — Principal investigator
First posted
Feb 23, 2023
Start date
Mar 1, 2021
Primary completion
Nov 1, 2025 (estimated)
Completion
Mar 1, 2026 (estimated)
Last update
Aug 20, 2025

Study contacts

Ilaria Meloni, BS.PhD
Contact
ilaria.meloni@dbm.unisi.it
+390577233259

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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Discussion

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