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Gene Editing as a Therapeutic Approach for Rett Syndrome (MECPer-3D)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05740761
Recruitment Status : Recruiting
First Posted : February 23, 2023
Last Update Posted : February 23, 2023
Sponsor:
Information provided by (Responsible Party):
Ilaria Meloni, University of Siena

Study Description
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Brief 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.

Condition or disease Intervention/treatment
Rett Syndrome Other: Gene editing in vitro

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
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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice
Actual Study Start Date : March 1, 2021
Actual Primary Completion Date : March 1, 2022
Estimated Study Completion Date : March 1, 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Intervention Details:
  • Other: Gene editing in vitro
    Testing of gene editing efficiency in vitro in human cellular models derived from patients

Outcome Measures
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Primary Outcome Measures :
  1. Editing efficiency [ Time Frame: 3 years ]
    Percentage of gene editing achieved for each mutation


Secondary Outcome Measures :
  1. Editing specificity [ Time Frame: 3 years ]
    Evaluation of off-targets


Eligibility Criteria
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Ages Eligible for Study:   6 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Female
Gender Based Eligibility:   Yes
Gender Eligibility Description:   Rett Syndrome affects almost exclusively females
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
Criteria

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;
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05740761


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

Locations
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Italy
University of Siena Recruiting
Siena, Italy, 53100
Contact: Ilaria Meloni, BS.PhD    +390577233259    ilaria.meloni@dbm.unisi.it   
Sponsors and Collaborators
University of Siena
More Information
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Additional Information:

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Responsible Party: Ilaria Meloni, Associate professor, University of Siena
ClinicalTrials.gov Identifier: NCT05740761    
Other Study ID Numbers: MECPer-3D
First Posted: February 23, 2023    Key Record Dates
Last Update Posted: February 23, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Rett Syndrome
Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
 Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System