Ignite Creation Date:
2025-12-24 @ 11:32 PM
Ignite Modification Date:
2026-02-25 @ 5:48 PM
Study NCT ID:
NCT03831256
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-02-12
First Post:
2019-01-21
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000782', 'term': 'Aneuploidy'}], 'ancestors': [{'id': 'D002869', 'term': 'Chromosome Aberrations'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'SCREENING', 'interventionModel': 'PARALLEL', 'interventionModelDescription': 'Open-label prospective comparative-effectiveness (utility) randomised trial between first-tier NIPS and the standard of care (2nd-tier NIPS).'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 7849}}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2020-01-13', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-02', 'completionDateStruct': {'date': '2025-06-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-02-10', 'studyFirstSubmitDate': '2019-01-21', 'studyFirstSubmitQcDate': '2019-02-04', 'lastUpdatePostDateStruct': {'date': '2025-02-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-02-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-12-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Gestational age at diagnosis', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'gestational age at final result in the sub-set of participants that have received a positive NIPS result and that have been offered diagnostic testing'}], 'secondaryOutcomes': [{'measure': 'Gestational age at negative screening result', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'gestational age at final result in the sub-set of participants that have received a negative screening result'}, {'measure': 'Gestational age at positive screening result', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'gestational age at final result in the sub-set of participants that have received a positive screening result'}, {'measure': 'proportion of women with no results', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'proportion of women with no NIPS result at first and second attempt'}, {'measure': 'numbers of days for women with false positive result of screen to wait for result of definite test', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'Difference between gestational age (in days) at first positive prenatal screening result and final negative screening result'}, {'measure': 'Change in PROMIS-29 Score', 'timeFrame': 'At weeks of gestation 10-13, week 16 and week 22', 'description': "The PROMIS-29 assesses seven health domains: physical function, anxiety, depression, fatigue, sleep disturbance, pain interference, and ability to participate in social roles and activities. Each of the seven domains has four questions which are scored on a five-point Likert scale. The PROMIS-29 scales will be scored using a T-score metric method available at the Assessment Center website (http://assessmentcenter.net). A score of 50 points represents the population average for each scale, and 10 points represent one standard deviation. Higher scores mean more of the specific scale's construct, which may indicate a desirable or an undesirable outcome. The assessment will be done at recruitment (10-13 weeks of gestation) and at week 16 and week 22 of gestation."}, {'measure': 'Change in PROMIS Emotional Distress - Anxiety - Short Form 8a Score', 'timeFrame': 'At weeks of gestation 10-13, 16 and 22', 'description': 'The PROMIS-Anxiety short form assesses anxiety with 8 questions. The form includes 8 items and uses a scale of 1-5 (1=Never, 2=Almost never, 3= Sometimes, 4=Often, 5=Almost always). The raw score is the sum of the points for each response. A higher than average raw score indicates higher than average anxiety. A higher score represents higher levels of anxiety. The assessment will be done at recruitment (10-13 weeks of gestation) and at week 16 and week 22 of gestation.'}, {'measure': 'Patient-Reported Experience Measure (PREM) - Score', 'timeFrame': 'At 22 weeks of gestation', 'description': 'A 17-questions validated PREM questionnaire on pregnancy experience that measures three dimensions - type of prenatal care received and test results (seven questions), pregnancy visits (four questions (scales 1-5) and prenatal screening experience (six questions).\n\nA profile score by looking at frequencies of responses for each item will be used.'}, {'measure': 'gestational age at termination of pregnancy', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'Gestational age at termination of pregnancy for participants having volountary termination'}, {'measure': 'percentage of women undergoing invasive diagnostic testing', 'timeFrame': 'Up to 24 weeks of gestational age', 'description': 'see outcome title'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Real life comparative effectiveness', 'Non-invasive prenatal screening', 'Fetal aneuploidy', 'Randomized controlled trial'], 'conditions': ['Prenatal Disorder', 'Aneuploidy']}, 'referencesModule': {'references': [{'pmid': '29125628', 'type': 'BACKGROUND', 'citation': 'Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Legare F, Giguere Y, Turgeon AF, Witteman W, Rousseau F. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2.'}]}, 'descriptionModule': {'briefSummary': 'This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional screening tests for trisomy 21, and potentially to screen for other fetal chromosome anomalies. We will compare the current screening approach of second-tier NIPS with the use of first-tier NIPS in a large cohort of pregnant women.', 'detailedDescription': 'There is some data on the performance of NIPS as a first tier screening test but our systematic review has shown that no trial comparing the effectiveness (utility) of 2nd-tier NIPS with that of first-tier NIPS has been published . Further it is important for health care decision makers to have evidence produced in Canada since the geographical context of healthcare can affect uptake as well as patient decision and thus their healthcare trajectories. There is a need for a trial that is between an explanatory trial and a pragmatic trial to provide the types of answer that we aim to document in the present state of knowledge on NIPS-based screening strategies in Canada. Our Objective is to perform a pan-Canadian large-scale comparative utility (clinical outcomes) study of first-tier NIPS (expanded or not) as compared to the new standard of care (NIPS as a 2nd tier test performed much later during pregnancy and only in high risk pregnancies).'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '19 Years', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Pregnant women 19 years or older wanting prenatal screening\n* 10-13+6 wks determined by dating ultrasound or last menstrual period.\n* Not intending to pursue self pay NIPT\n\nExclusion Criteria:\n\n* Known fetal anomaly at the time of recruitment\n* Multiple gestation\n* Known twin demise\n* Planned CVS or amnio for known genetic condition.'}, 'identificationModule': {'nctId': 'NCT03831256', 'acronym': 'PEGASUS-2', 'briefTitle': 'PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood', 'organization': {'class': 'OTHER', 'fullName': 'CHU de Quebec-Universite Laval'}, 'officialTitle': 'PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood : Towards First Tier Screening and Beyond', 'orgStudyIdInfo': {'id': 'SIRUL 118984'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'ACTIVE_COMPARATOR', 'label': 'Standard of care (2nd tier NIPS)', 'description': 'For the standard-of-care arm (2nd tier NIPS) women will undergo Traditional integrated prenatal screening i.e. traditional biochemical (+/- NT) and those with a positive screen for T21 or T18 will be offered Second-tier Non-invasive prenatal screening (NIPS) (for T21, T18, T13) or Invasive prenatal testing for fetal aneuploidy. Ultrasound examination in first and second trimester will be done based on clinical care practice ordered by health care provider. Pregnant women with a positive NIPS test will be offered Invasive prenatal testing for fetal aneuploidy (fetal chromosome analysis).', 'interventionNames': ['Diagnostic Test: Traditional integrated prenatal screening', 'Diagnostic Test: Second-tier Non-invasive prenatal screening (NIPS)', 'Diagnostic Test: Invasive prenatal testing for fetal aneuploidy']}, {'type': 'EXPERIMENTAL', 'label': 'First-tier NIPS', 'description': 'For the intervention arm (1st tier NIPS) women will receive First-tier Non-invasive prenatal screening (NIPS) i.e. provide a blood sample between 10-13+5 weeks gestation with NIPS results within 7 - 10 days of sample collection. Ultrasound examination in first and second trimester will be done based on clinical care practice ordered by health care provider. In case of a failed NIPS test (expected to be between 2% and 4% of samples), a new blood sample will be drawn for NIPS retest as well as for a traditional SIPS(serum integrated prenatal screening) or QUAD(quadruple marker prenatal screening) screen (depending on gestational age). Pregnant women with a positive NIPS test will be offered Invasive prenatal testing for fetal aneuploidy (fetal chromosome analysis).', 'interventionNames': ['Diagnostic Test: First-tier Non-invasive prenatal screening (NIPS)', 'Diagnostic Test: Invasive prenatal testing for fetal aneuploidy']}], 'interventions': [{'name': 'Traditional integrated prenatal screening', 'type': 'DIAGNOSTIC_TEST', 'otherNames': ['IPS'], 'description': 'biochemical prenatal screening with or without nuchal translucency by US', 'armGroupLabels': ['Standard of care (2nd tier NIPS)']}, {'name': 'Second-tier Non-invasive prenatal screening (NIPS)', 'type': 'DIAGNOSTIC_TEST', 'otherNames': ['second tier non-invasive prenatal testing (NIPT)'], 'description': 'genomics based NIPS after a positive traditional prenatal screen', 'armGroupLabels': ['Standard of care (2nd tier NIPS)']}, {'name': 'First-tier Non-invasive prenatal screening (NIPS)', 'type': 'DIAGNOSTIC_TEST', 'otherNames': ['first tier NIPT, Universal NIPS, Universal NIPT'], 'description': 'genomics based NIPS at first trimester', 'armGroupLabels': ['First-tier NIPS']}, {'name': 'Invasive prenatal testing for fetal aneuploidy', 'type': 'DIAGNOSTIC_TEST', 'description': 'amniocentesis or chorionic villi sampling (CVS)', 'armGroupLabels': ['First-tier NIPS', 'Standard of care (2nd tier NIPS)']}]}, 'contactsLocationsModule': {'locations': [{'zip': 'V1Y 1P2', 'city': 'Kelowna', 'state': 'British Columbia', 'country': 'Canada', 'facility': 'Kelowna Regional Fertility Center', 'geoPoint': {'lat': 49.88307, 'lon': -119.48568}}, {'zip': 'V8J 2A6', 'city': 'Prince Rupert', 'state': 'British Columbia', 'country': 'Canada', 'facility': 'Prince Rupert Regional Hospital', 'geoPoint': {'lat': 54.31507, 'lon': -130.32098}}, {'zip': 'V6H 3N1', 'city': 'Vancouver', 'state': 'British Columbia', 'country': 'Canada', 'facility': "Children's & Women's Health Centre", 'geoPoint': {'lat': 49.24966, 'lon': -123.11934}}, {'zip': 'H3T 1C5', 'city': 'Montreal', 'state': 'Quebec', 'country': 'Canada', 'facility': 'CHU Ste-Justine', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}, {'zip': 'G1L3L5', 'city': 'Québec', 'state': 'Quebec', 'country': 'Canada', 'facility': 'CHU de Québec - Université Laval', 'geoPoint': {'lat': 46.81228, 'lon': -71.21454}}, {'zip': 'G4R 0N9', 'city': 'Sept-Îles', 'state': 'Quebec', 'country': 'Canada', 'facility': 'CIUSSS Côte-Nord', 'geoPoint': {'lat': 50.20011, 'lon': -66.38208}}], 'overallOfficials': [{'name': 'Sylvie Langlois, MD FRCPC', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of British Columbia'}, {'name': 'Francois Rousseau, MD MSc FRCPC', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'CHU de Québec - Université Laval'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'CHU de Quebec-Universite Laval', 'class': 'OTHER'}, 'collaborators': [{'name': 'Genome Quebec', 'class': 'OTHER'}, {'name': 'Genome British Columbia', 'class': 'INDUSTRY'}, {'name': 'Genome Alberta', 'class': 'OTHER'}, {'name': 'Ontario Research Fund', 'class': 'OTHER'}, {'name': 'Laval University', 'class': 'OTHER'}, {'name': "St. Justine's Hospital", 'class': 'OTHER'}, {'name': 'Ottawa Hospital Research Institute', 'class': 'OTHER'}, {'name': 'McGill University', 'class': 'OTHER'}, {'name': 'University of British Columbia', 'class': 'OTHER'}, {'name': 'University of Alberta', 'class': 'OTHER'}, {'name': 'Genome Canada', 'class': 'OTHER'}, {'name': 'Canadian Institutes of Health Research (CIHR)', 'class': 'OTHER_GOV'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor-doctor', 'investigatorFullName': 'François Rousseau', 'investigatorAffiliation': 'CHU de Quebec-Universite Laval'}}}}