Ignite Creation Date:
2025-12-25 @ 1:40 AM
Ignite Modification Date:
2026-02-22 @ 7:05 AM
Study NCT ID:
NCT03688594
Status:
UNKNOWN
Last Update Posted:
2018-09-28
First Post:
2018-09-26
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 60}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2018-05-22', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-09', 'completionDateStruct': {'date': '2019-05-23', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2018-09-26', 'studyFirstSubmitDate': '2018-09-26', 'studyFirstSubmitQcDate': '2018-09-26', 'lastUpdatePostDateStruct': {'date': '2018-09-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-09-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2019-05-22', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)', 'timeFrame': 'Measurement will be performed at the end of the protocol (12 months)'}], 'secondaryOutcomes': [{'measure': 'Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA', 'timeFrame': 'Measurement will be performed at the end of the protocol (12 months)'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Genetic Disorders in Pregnancy']}, 'descriptionModule': {'briefSummary': 'The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk.\n\nThe performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.\n\nSecondary objectives of the protocol are\n\n* To adapt NIPT to small DNA quantity (5-50 ng)\n* To adapt bioinformatics pipeline to low rate of mosaicism\n* To develop a tool to quantify the fetal fraction\n* To evaluate the robustness of the method\n\nThis test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Couple (father, mother) \\> 18 ans\n* Pregnant woman (\\> 12-15 weeks of gestation) with a fetal sampling needed in standard care.\n* informed consent obtained\n* couple affiliated to the social insurance in France\n\nExclusion Criteria:\n\n* DNA extraction failure\n* Absence of informed consent\n* Father or mother placed under judicial protection or under guardianship or tutorship'}, 'identificationModule': {'nctId': 'NCT03688594', 'acronym': 'DEFI', 'briefTitle': 'Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Strasbourg, France'}, 'officialTitle': 'Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities', 'orgStudyIdInfo': {'id': '6792'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'couple : man and pregnant women', 'interventionNames': ['Diagnostic Test: NIPT Test']}], 'interventions': [{'name': 'NIPT Test', 'type': 'DIAGNOSTIC_TEST', 'description': 'This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.', 'armGroupLabels': ['couple : man and pregnant women']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Strasbourg', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'bénédicte GERARD, PharmD, PhD', 'role': 'CONTACT'}], 'facility': 'Hôpitaux Universitaires de Strasbourg', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}], 'centralContacts': [{'name': 'Bénédicte GERARD, PharmD, PhD', 'role': 'CONTACT', 'email': 'benedicte.gerard@chru-strasbourg.fr', 'phone': '03 69 55 07 77'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Strasbourg, France', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}