Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
NCT ID: NCT03688594
Last Updated: 2018-09-28
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
NA
60 participants
INTERVENTIONAL
2018-05-22
2019-05-23
Brief Summary
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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
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Conditions
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Study Design
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NA
SINGLE_GROUP
DIAGNOSTIC
NONE
Study Groups
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couple : man and pregnant women
NIPT Test
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.
Interventions
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NIPT Test
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.
Eligibility Criteria
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Inclusion Criteria
* Pregnant woman (\> 12-15 weeks of gestation) with a fetal sampling needed in standard care.
* informed consent obtained
* couple affiliated to the social insurance in France
Exclusion Criteria
* Absence of informed consent
* Father or mother placed under judicial protection or under guardianship or tutorship
18 Years
ALL
No
Sponsors
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University Hospital, Strasbourg, France
OTHER
Responsible Party
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Locations
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Hôpitaux Universitaires de Strasbourg
Strasbourg, , France
Countries
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Central Contacts
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Facility Contacts
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bénédicte GERARD, PharmD, PhD
Role: primary
Other Identifiers
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6792
Identifier Type: -
Identifier Source: org_study_id