Ignite Creation Date:
2025-12-24 @ 10:55 PM
Ignite Modification Date:
2025-12-29 @ 12:17 AM
Study NCT ID:
NCT05168969
Status:
COMPLETED
Last Update Posted:
2023-04-25
First Post:
2021-12-10
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Hyperekplexia in Patients With CTNNB1 Mutation
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000071017', 'term': 'Hyperekplexia'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D008607', 'term': 'Intellectual Disability'}], 'ancestors': [{'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D011795', 'term': 'Surveys and Questionnaires'}], 'ancestors': [{'id': 'D003625', 'term': 'Data Collection'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 10}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2022-07-02', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-04', 'completionDateStruct': {'date': '2022-12-10', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-04-24', 'studyFirstSubmitDate': '2021-12-10', 'studyFirstSubmitQcDate': '2021-12-10', 'lastUpdatePostDateStruct': {'date': '2023-04-25', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-12-23', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-12-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of hyperekplexia in CTNNB1 subjects', 'timeFrame': 'on the day of filling in the questionnaire', 'description': 'Number of children with hyperekplexia and CTNNB1 syndrome'}], 'secondaryOutcomes': [{'measure': 'Clinical features of hyperekplexia', 'timeFrame': 'on the day of filling in the questionnaire', 'description': 'Clinical features (developmental, neurological, and visual disorders) of hyperekplexia in CTNNB1 syndrome'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Hyperekplexia', 'CTNNB1', 'genetic disorder', 'psychomotor development', 'intellectual disability', 'neurological phenomenon', 'various visual defects', 'progressive spastic diplegia'], 'conditions': ['Hyperekplexia', 'CTNNB1 Gene Mutation']}, 'descriptionModule': {'briefSummary': 'A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene. The clinical features include a delayed psychomotor development usually leading to severe intellectual disability with or without autistic spectrum disorders, progressive spastic diplegia, and various visual defects. Among over 30 cases described worldwide, 2 were reported with an exaggerated startle response to sudden stimulus corresponding to a very rare neurological phenomenon called hyperekplexia. The investigators also have a 3rd patient carrying a CTNNB1 syndrome associated with hyperekplexia.', 'detailedDescription': 'Hyperekplexia can impair daily life because the affected person will fall unexpectedly and stiffly, causing repeated head- or body- wounds. It may be treated empirically by various drugs. Hyperekplexia has so far not been associated with CTNNB1 variations.\n\nIn this study, we aim to describe the prevalence and clinical characteristics of hyperekplexia in CTNNB1 syndrome carriers, in order to improve diagnosis and thus treatment.\n\nThe investigators will recruit CTNNB1 subjects through health care providers and also by contacting the families through dedicated social media and databases. The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'CTNNB1 subjects', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient carrying a CTNNB1 syndrome showing an exaggerated startle response\n* child whose parents have signed a consent form to participate in the study\n\nExclusion Criteria:\n\n* Absence of molecular diagnosis\n* Refusal to participate'}, 'identificationModule': {'nctId': 'NCT05168969', 'acronym': 'CTNNB1', 'briefTitle': 'Hyperekplexia in Patients With CTNNB1 Mutation', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire de Saint Etienne'}, 'officialTitle': 'Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation', 'orgStudyIdInfo': {'id': '21CH164'}, 'secondaryIdInfos': [{'id': 'ANSM', 'type': 'OTHER', 'domain': '2021-A02047-34'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patient carrying a CTNNB1 syndrome', 'description': 'Recruitment of subjects with CTNNB1 syndrome will be done through health care providers, but also by contacting families through social media and specialized databases.', 'interventionNames': ['Other: Questionnaire']}], 'interventions': [{'name': 'Questionnaire', 'type': 'OTHER', 'description': 'The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).', 'armGroupLabels': ['Patient carrying a CTNNB1 syndrome']}]}, 'contactsLocationsModule': {'locations': [{'zip': '42055', 'city': 'Saint-Etienne', 'country': 'France', 'facility': 'Chu Saint-Etienne', 'geoPoint': {'lat': 45.43389, 'lon': 4.39}}], 'overallOfficials': [{'name': 'Laure MAZZOLA, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Centre Hospitalier Universitaire de Saint Etienne'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire de Saint Etienne', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}