Ignite Creation Date:
2025-12-24 @ 12:18 PM
Ignite Modification Date:
2025-12-27 @ 9:27 PM
Study NCT ID:
NCT05740761
Status:
RECRUITING
Last Update Posted:
2025-08-20
First Post:
2023-02-13
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Gene Editing as a Therapeutic Approach for Rett Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D015518', 'term': 'Rett Syndrome'}], 'ancestors': [{'id': 'D038901', 'term': 'X-Linked Intellectual Disability'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000072669', 'term': 'Gene Editing'}, {'id': 'D066298', 'term': 'In Vitro Techniques'}], 'ancestors': [{'id': 'D005818', 'term': 'Genetic Engineering'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 40}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-03-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-08', 'completionDateStruct': {'date': '2026-03-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-08-14', 'studyFirstSubmitDate': '2023-02-13', 'studyFirstSubmitQcDate': '2023-02-13', 'lastUpdatePostDateStruct': {'date': '2025-08-20', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-02-23', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-11-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Editing efficiency', 'timeFrame': '3 years', 'description': 'Percentage of gene editing achieved for each mutation'}], 'secondaryOutcomes': [{'measure': 'Editing specificity', 'timeFrame': '3 years', 'description': 'Evaluation of off-targets'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Rett Syndrome']}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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).'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '6 Months', 'genderBased': True, 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients affected by Rett syndrome with one of the four hotspots mutations in MECP2 gene: p.T158M, p.R255X, p.R168X, p.R306C', 'genderDescription': 'Rett Syndrome affects almost exclusively females', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* 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:\n\n c. 473C\\>T - (p.(T158M)), c.502C\\>T (p(R168X)), c.763C\\>T (p.(R255X)), c.916C\\>T (p.(R306C));\n* Age above 6 months;\n* Availability of parents or legal guardians to provide free and informed consent to participate in the study\n\nExclusion Criteria:\n\n* NGS diagnosis with the normal outcome;\n* Positive NGS diagnosis for mutation in MECP2 but with the presence of a mutation different from those under study.\n* Unwillingness of parents or legal guardians to provide free and informed consent to participate in the study;'}, 'identificationModule': {'nctId': 'NCT05740761', 'acronym': 'MECPer-3D', 'briefTitle': 'Gene Editing as a Therapeutic Approach for Rett Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'University of Siena'}, 'officialTitle': 'Personalized MECP2 Gene Therapy Using CRISPR/Cas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice', 'orgStudyIdInfo': {'id': 'MECPer-3D'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Gene editing in vitro', 'type': 'OTHER', 'description': 'Testing of gene editing efficiency in vitro in human cellular models derived from patients'}]}, 'contactsLocationsModule': {'locations': [{'zip': '53100', 'city': 'Siena', 'state': 'Siena', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Ilaria Meloni, BS.PhD', 'role': 'CONTACT', 'email': 'ilaria.meloni@dbm.unisi.it', 'phone': '+390577233259'}], 'facility': 'University of Siena', 'geoPoint': {'lat': 43.31822, 'lon': 11.33064}}], 'centralContacts': [{'name': 'Ilaria Meloni, BS.PhD', 'role': 'CONTACT', 'email': 'ilaria.meloni@dbm.unisi.it', 'phone': '+390577233259'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Siena', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Associate professor', 'investigatorFullName': 'Ilaria Meloni', 'investigatorAffiliation': 'University of Siena'}}}}