ANDDI-PRENATOME - Feasibility Study for a " Fast " Pangenomic High Throughput Sequencing Analysis in Prenatal Diagnosis (AnddiPrenatome)
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ClinicalTrials.gov Identifier: NCT03964441 |
Recruitment Status :
Recruiting
First Posted : May 28, 2019
Last Update Posted : June 22, 2022
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Tracking Information | |||||
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First Submitted Date | May 22, 2019 | ||||
First Posted Date | May 28, 2019 | ||||
Last Update Posted Date | June 22, 2022 | ||||
Actual Study Start Date | June 20, 2019 | ||||
Estimated Primary Completion Date | July 2024 (Final data collection date for primary outcome measure) | ||||
Current Primary Outcome Measures |
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Original Primary Outcome Measures | Same as current | ||||
Change History | |||||
Current Secondary Outcome Measures |
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Original Secondary Outcome Measures | Not Provided | ||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||
Descriptive Information | |||||
Brief Title | ANDDI-PRENATOME - Feasibility Study for a " Fast " Pangenomic High Throughput Sequencing Analysis in Prenatal Diagnosis | ||||
Official Title | ANDDI-PRENATOME - Feasibility Study for a " Fast " Pangenomic High Throughput Sequencing Analysis in Prenatal Diagnosis | ||||
Brief Summary | Prenatal diagnosis of genetic diseases is a real medical challenge. The discovery of antenatal abnormalities on ultrasound is frequent (5 to 10% of pregnancies), and when an abnormalities is seen on ultrasound, it raises the possibility of an underlying developmental anomaly. Currently, in France, when abnormalities are discovered with an ultrasound scan, the etiological diagnosis is based on additional imaging tests (cerebral MRI, 3D bone tomography, fetal CT, fetal CT) or diagnostic tests such as invasive chorionic villus sampling, amniocentesis or fetal blood for infectious, metabolic, immunological and genetic investigations (standard karyotype, FISH (fluorescence in situ hybridization) for the rapid detection of aneuploidy, Chromosome Analysis on DNA Chip (ACPA or CGH-array) and possible sequencing of targeted genes when they are available within a time frame compatible with pregnancy). NIPT (Non-invasive prenatal testing) on cell free fetal DNA circulating in maternal blood has more limited indications, allowing, from an early stage of pregnancy, the determination of fetal sex and fetal rhesus factor and the search for aneuploidy. However, establishing an etiological diagnosis during pregnancy has many benefits for the parents: clarifying the cause, obtaining a more precise prognosis to determine future management and outcome of the pregnancy, and establishing the risks of recurrence. Over the past decade, medical genetics has undergone a real technological revolution, leading to the development of high throughput genome-wide, exome (ES) and genome (GS) sequencing. However, few countries have currently embarked on ES/GS in prenatal care, due to the constraints of time and the difficulty of interpreting genomic data when the clinical data is limited to antenatal imaging data. In 2016, France launched the France Medicine Genomics 2025 Plan (PFMG2025) to deploy GS, particularly in the diagnosis of rare diseases. It is thus becoming essential to define the modalities of prescription of this testing, in particular during prenatal diagnosis. In parallel, from the first publications, the applications of genomic analysis on circulating fetal DNA seem to be able to extend to genome sequencing for research of SNVs responsible for developmental diseases. The AnDDI-rares health network therefore proposes this ANDDI-PRENATOME pilot project to study the feasibility of a "rapid" analysis of ES in prenatal diagnosis from 61 fetuses with ultrasound abnormalities, as a first step before considering future cost-effectiveness (PRME) or care system performance (PREPS) studies in conjunction with the PFMG2025. |
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Detailed Description | Not Provided | ||||
Study Type | Observational | ||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||
Biospecimen | Not Provided | ||||
Sampling Method | Non-Probability Sample | ||||
Study Population | Pregnant women with antenatal discovery of at least two obstetrical ultrasound abnormalities | ||||
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Intervention |
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Study Groups/Cohorts |
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Publications * | Not Provided | ||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status | Recruiting | ||||
Estimated Enrollment |
150 | ||||
Original Estimated Enrollment |
61 | ||||
Estimated Study Completion Date | July 2024 | ||||
Estimated Primary Completion Date | July 2024 (Final data collection date for primary outcome measure) | ||||
Eligibility Criteria | Inclusion Criteria:
Pilot Organizational Study: In addition to the inclusion & exclusion criteria of the main study:
Exclusion Criteria:
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Sex/Gender |
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Ages | 18 Years and older (Adult, Older Adult) | ||||
Accepts Healthy Volunteers | No | ||||
Contacts |
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Listed Location Countries | France | ||||
Removed Location Countries | |||||
Administrative Information | |||||
NCT Number | NCT03964441 | ||||
Other Study ID Numbers | THAUVIN AnDDI rares 2018 | ||||
Has Data Monitoring Committee | Not Provided | ||||
U.S. FDA-regulated Product |
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IPD Sharing Statement | Not Provided | ||||
Current Responsible Party | Centre Hospitalier Universitaire Dijon | ||||
Original Responsible Party | Same as current | ||||
Current Study Sponsor | Centre Hospitalier Universitaire Dijon | ||||
Original Study Sponsor | Same as current | ||||
Collaborators | Not Provided | ||||
Investigators | Not Provided | ||||
PRS Account | Centre Hospitalier Universitaire Dijon | ||||
Verification Date | July 2021 |