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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT02381457
Registration number
NCT02381457
Ethics application status
Date submitted
2/03/2015
Date registered
6/03/2015
Date last updated
29/01/2021
Titles & IDs
Public title
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
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Scientific title
SNP-based Microdeletion and Aneuploidy RegisTry
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Secondary ID [1]
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14-024-NPT
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Universal Trial Number (UTN)
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Trial acronym
SMART
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
22q11 Deletion Syndrome
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DiGeorge Syndrome
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Trisomy 21
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Trisomy 18
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Trisomy 13
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Monosomy X
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Sex Chromosome Abnormalities
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Cri-du-Chat Syndrome
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Angelman Syndrome
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Prader-Willi Syndrome
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1p36 Deletion Syndrome
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Condition category
Condition code
Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Mental Health
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Learning disabilities
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Neurological
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Other neurological disorders
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Human Genetics and Inherited Disorders
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Down's syndrome
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Cardiovascular
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Other cardiovascular diseases
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Other
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Research that is not of generic health relevance and not applicable to specific health categories listed above
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Intervention/exposure
Study type
Observational [Patient Registry]
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Pregnancies undergoing prenatal microdeletion screening - Pregnant women undergoing non-invasive prenatal screening for microdeletion and aneuploidy syndromes.
No drug will be administrated, this cohort will undergo a non invasive prenatal blood test and then follow up data and specimens will be collected for research analysis.
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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22q11.2 Snp-based non-invasive prenatal screening test performance, including positive predictive value (PPV), specificity, and sensitivity
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Assessment method [1]
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To determine in a prospective study the performance of SNP based NIPT for the 22q11.2 microdeletion (DiGeorge syndrome) in a large cohort of pregnant women clinically opting for this form of screening.
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Timepoint [1]
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3 years
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Secondary outcome [1]
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Combined microdeletion syndrome screening test performance
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Assessment method [1]
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Determine the test performance (PPV, specificity) of SNP based NIPT for detecting other microdeletion syndromes available in the Panorama microdeletion panel (e.g., 1p36 deletion, Cri-du-chat, Prader-Willi, and Angelman) individually and all combined (including 22q11.2). Given the incidences of <1:5000, the confidence intervals are expected to be large.
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Timepoint [1]
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3 years
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Secondary outcome [2]
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No call rate
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Assessment method [2]
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Determine the failure ('no call') rate for the NATUS method for 22q11.2 detection, as well as for aneuploidy.
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Timepoint [2]
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3 years
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Secondary outcome [3]
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Low fetal fraction aneuploidy risk refinement
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Assessment method [3]
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Determine whether a more precise risk for aneuploidy can be generated in the setting of low fetal fraction by incorporating maternal BMI (adjusted fetal fraction percentile), or whether low fetal fraction is associated with specific ultrasound findings that may indicate aneuploidy (e.g. triploidy, trisomy 13 and 18).
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Timepoint [3]
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3 years
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Secondary outcome [4]
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Placental mosaicism exploration
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Assessment method [4]
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Perform detailed assessment of false positive aneuploidy samples to better understand sources of error, including placental studies to further refine issues surrounding mosaicism as NIPT represents circulating placental DNA.
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Timepoint [4]
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3 years
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Secondary outcome [5]
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Placental complications exploration
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Assessment method [5]
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Investigate any relationships between circulating placental DNA (fetal fraction) or other test parameters including potential genotypic markers, and outcomes related to abnormal placentation (including but not limited to preeclampsia, small for gestational age and morbidly adherent placenta).
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Timepoint [5]
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3 years
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Eligibility
Key inclusion criteria
- Singleton pregnancy
- Receiving Panorama prenatal screening test for both microdeletions (at least 22q11.2)
and aneuploidy
- Planned hospital delivery
- Gestational age of = 9 weeks, 0 days based on clinical information and evaluation.
- Able to provide informed consent
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Minimum age
18
Years
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Maximum age
48
Years
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Sex
Females
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Can healthy volunteers participate?
Yes
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Key exclusion criteria
- Received results of the Panorama test prior to enrollment
- Organ transplant recipient
- Egg donor used
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Completed
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
1/04/2015
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
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Actual
1/06/2020
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Sample size
Target
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Accrual to date
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Final
20960
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Recruitment in Australia
Recruitment state(s)
NSW
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Recruitment hospital [1]
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Royal Prince Alfred - Camperdown
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Recruitment postcode(s) [1]
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2050 - Camperdown
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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California
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Country [2]
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United States of America
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State/province [2]
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New Jersey
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Country [3]
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United States of America
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New York
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Country [4]
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United States of America
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State/province [4]
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Texas
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Country [5]
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United States of America
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State/province [5]
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Utah
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Country [6]
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Ireland
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State/province [6]
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Dublin
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Country [7]
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Spain
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State/province [7]
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Barcelona
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Country [8]
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Sweden
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State/province [8]
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Gothenburg
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Country [9]
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United Kingdom
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State/province [9]
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London
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Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
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Name
Natera, Inc.
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Address
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Other collaborator category [1]
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Other
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Name [1]
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George Washington University
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Address [1]
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Country [1]
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Other collaborator category [2]
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Other
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Name [2]
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University of California, San Francisco
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Address [2]
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Other collaborator category [3]
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Other
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Name [3]
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Montefiore Medical Center
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Address [3]
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Other collaborator category [4]
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Other
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Name [4]
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Children's Hospital of Philadelphia
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Address [4]
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Ethics approval
Ethics application status
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Summary
Brief summary
This multi-center prospective observational study is designed to track birth outcomes and
perinatal correlates to the Panorama prenatal screening test in the general population among
ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy
screening as part of their routine care. The primary objective is to evaluate the performance
of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for
22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will
be done by performing a review of perinatal medical records and obtaining biospecimens after
birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up
specimens will be compared to those obtained by the Panorama screening test to determine test
performance. Specific test performance parameters will include: PPV, specificity, and
sensitivity.
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Trial website
https://clinicaltrials.gov/ct2/show/NCT02381457
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Trial related presentations / publications
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013 Dec;122(6):1374-7. doi: 10.1097/01.AOG.0000438962.16108.d1.
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Public notes
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Contacts
Principal investigator
Name
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Peer Dar, MD
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Address
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Montefiore Medical Center
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Phone
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Fax
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Email
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Contact person for public queries
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Address
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Fax
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Email
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT02381457
Download to PDF