Ignite Creation Date:
2025-12-25 @ 1:40 AM
Ignite Modification Date:
2026-03-05 @ 2:55 PM
Study NCT ID:
NCT03688594
Status:
UNKNOWN
Last Update Posted:
2018-09-28
First Post:
2018-09-26
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Sponsor:
University Hospital, Strasbourg, France
Organization:
Study Overview
Official Title:
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Status:
UNKNOWN
Status Verified Date:
2018-09
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
DEFI
Brief Summary:
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.
The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.
Secondary objectives of the protocol are
* To adapt NIPT to small DNA quantity (5-50 ng)
* To adapt bioinformatics pipeline to low rate of mosaicism
* To develop a tool to quantify the fetal fraction
* To evaluate the robustness of the method
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.
The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.
Secondary objectives of the protocol are
* To adapt NIPT to small DNA quantity (5-50 ng)
* To adapt bioinformatics pipeline to low rate of mosaicism
* To develop a tool to quantify the fetal fraction
* To evaluate the robustness of the method
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.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: