NIPD of CFTC by WGA Coupled to Mini-exome Sequencing
DIAFEXOME
Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Monogenic Diseases
1 other identifier
interventional
18
1 country
1
Brief Summary
The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for not_applicable
Started Dec 2018
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
November 8, 2018
CompletedFirst Posted
Study publicly available on registry
November 16, 2018
CompletedStudy Start
First participant enrolled
December 19, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 27, 2019
CompletedStudy Completion
Last participant's last visit for all outcomes
December 30, 2019
CompletedSeptember 27, 2019
November 1, 2018
8 months
November 8, 2018
September 26, 2019
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).
Analysis of the concordance of the prenatal results obtained by our new NIPD (Non-Invasive Prenatal Diagnosis) approach and those blindly obtained during the gold-standard prenatal genetic test will be carried out for each pregnant woman participating in the study.
at 36 month
Secondary Outcomes (1)
Non Invasive Prenatal Diagnostic test failure rate.
at 36 month
Study Arms (1)
Expectant couple at risk of transmitting a monogenic disease.
EXPERIMENTALExpectant couple (pregnant woman from 9 weeks of gestation and spouse) at risk of transmitting a monogenic disease among the genes included in the trusight one expanded sequencing kit (Illumina).
Interventions
15 pregnant women and their spouses Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood
Eligibility Criteria
You may qualify if:
- older than 18 years old
- pregnant woman between 9 and 34 weeks of gestation
- Couple undergoing prenatal diagnosis for a monogenic disease caused by point mutation(s)
- Written informed consent was obtained for the study
- Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected
- Couple molecular diagnosis results for a monogenic disease caused by point mutation(s) MUST BE AVAILABLE.
You may not qualify if:
- Couple Genomic DNA are unavailable
- Subjects at risk of transmitting the family disease, but not wishing to know their molecular status
- Individuals under guardianship by court order
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University Hospital, Montpellierlead
- ABM Industriescollaborator
Study Sites (1)
INSERM-Hospital,
Montpellier, Herault, 34295, France
Study Officials
- PRINCIPAL INVESTIGATOR
Claire Guissart, PhD-PharmD
molecular genetics
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- OTHER
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 8, 2018
First Posted
November 16, 2018
Study Start
December 19, 2018
Primary Completion
August 27, 2019
Study Completion
December 30, 2019
Last Updated
September 27, 2019
Record last verified: 2018-11
Data Sharing
- IPD Sharing
- Will not share