Rett SyndromeMECPer-3DNCT05740761
Gene Editing as a Therapeutic Approach for Rett Syndrome
An observational study of Rett Syndrome, run by University of Siena at 1 site in Italy.
Trial 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 more about this study
- Who is it for?
- Ages 6 months and older, women only
- Conditions the study is for
- Rett Syndrome
- What is being tested?
- Gene editing in vitro
- How many people
- 40 participants
- Where
- 1 siteItaly
- Study dates
- 1 Mar 2021to 1 Mar 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months and older
- Women only
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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:
- 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
Who cannot join
- 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;
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
University of Siena
Siena, Siena, 53100
Ilaria Meloni, BS.PhD, +390577233259, ilaria.meloni@dbm.unisi.it
About this study
Official title: Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice
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).
- Conditions
- Rett Syndrome
- Being tested
- Gene editing in vitro
- Medical subject headings
- Rett Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gene editing in vitroOther
Testing of gene editing efficiency in vitro in human cellular models derived from patients
What is being measured
The primary outcome is the main question the study is designed to answer.
Editing efficiency
Percentage of gene editing achieved for each mutation
Measured: 3 years
Secondary outcomes (1)
Editing specificity
Evaluation of off-targets
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2023
- Study start1 Mar 2021
- Primary completion1 Nov 2025 (estimated)
- Study completion1 Mar 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Siena
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ilaria Meloni, University of Siena
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05740761
- Sponsor's protocol ID
- MECPer-3D
- Acronym
- MECPer-3D
- Status last verified
- Aug 2025
- First submitted
- 13 Feb 2023
- Last updated
- 20 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice
- ClinicalTrials.gov ID
- NCT05740761
- Acronym / sponsor ID
- MECPer-3D / MECPer-3D
- Conditions
- Rett Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University of SienaUniversity, hospital or other
- Study start
- 1 Mar 2021 (actual)
- Primary completion
- 1 Nov 2025 (estimated)
- Study completion
- 1 Mar 2026 (estimated)
- First posted
- 23 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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).
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 months and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (4 listed)
- 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:
- Age above 6 months;
- Availability of parents or legal guardians to provide free and informed consent to participate in the study
Key exclusion criteria (3 listed)
- 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;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Gene editing in vitroTesting of gene editing efficiency in vitro in human cellular models derived from patients | Other | – |
Primary outcome
Editing efficiency
Time frame: 3 years
Percentage of gene editing achieved for each mutation
1 secondary outcome
Editing specificity
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Aug 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rett Syndrome, run by University of Siena at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ilaria Meloni, BS.PhD (+390577233259, ilaria.meloni@dbm.unisi.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Editing efficiency (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Aug 2025.