Ignite Creation Date:
2025-12-24 @ 11:54 PM
Ignite Modification Date:
2025-12-25 @ 9:49 PM
Study NCT ID:
NCT04043351
Status:
COMPLETED
Last Update Posted:
2025-06-06
First Post:
2019-07-23
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000067877', 'term': 'Autism Spectrum Disorder'}], 'ancestors': [{'id': 'D002659', 'term': 'Child Development Disorders, Pervasive'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-06-12', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2021-10-19', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-06-02', 'studyFirstSubmitDate': '2019-07-23', 'studyFirstSubmitQcDate': '2019-07-31', 'lastUpdatePostDateStruct': {'date': '2025-06-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-08-02', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-10-19', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Proportion of unrelated index cases', 'timeFrame': 'through study completion, an average of 4 years', 'description': 'at least one definite or probable risk factor or causal variant of a monogenic form of autism'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Autism Spectrum Disorder']}, 'descriptionModule': {'briefSummary': 'Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Subjects with Autism Spectrum Disorder (ASD)', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient with ASD who has been previously diagnosed by an expert center according to the DSM5 criteria using standardized instruments (ADOS, ADI-R), referred to genetic consultation by the psychiatrist who performed the clinical diagnosis, according to the recommendations of the HAS, and requesting a genetic analysis for medical purposes in this context.\n* Patient over 3 years old\n* Patient affiliated to a social security scheme\n* For minor patients: Holders of the exercise of parental authority who have read and understood the newsletter and signed the consent form\n* For a major patient: Major patient who has read and understood the newsletter and signed the consent form\n* Supervised minor / minor patient: Legal representative who has read and understood the newsletter and signed the consent form\n* Major patient under guardianship: Major patient assisted by his curator or by the judge having read and understood the newsletter and signed the consent form\n* DNA of the patient and parents available\n\nExclusion Criteria:\n\n* Patient who has already benefited from exome sequencing\n* Person deprived of liberty by an administrative or judicial decision\n* Pregnant or lactating woman'}, 'identificationModule': {'nctId': 'NCT04043351', 'acronym': 'REDIA', 'briefTitle': 'Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Rouen'}, 'officialTitle': 'Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders', 'orgStudyIdInfo': {'id': '2018/0417/HP'}}, 'contactsLocationsModule': {'locations': [{'zip': '76000', 'city': 'Rouen', 'country': 'France', 'facility': 'DRCI', 'geoPoint': {'lat': 49.44313, 'lon': 1.09932}}], 'overallOfficials': [{'name': 'GAEL NICOLAS', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'ROUEN HOSPITAL'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Rouen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}