Back to resultsNon Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities (DEFI)
Primary Purpose
Genetic Disorders in Pregnancy
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
NIPT Test
Sponsored by
About this trial
This is an interventional diagnostic trial for Genetic Disorders in Pregnancy
Eligibility Criteria
Inclusion Criteria:
- Couple (father, mother) > 18 ans
- 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:
- DNA extraction failure
- Absence of informed consent
- Father or mother placed under judicial protection or under guardianship or tutorship
Sites / Locations
- Hôpitaux Universitaires de StrasbourgRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
couple : man and pregnant women
Arm Description
Outcomes
Primary Outcome Measures
Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)
Secondary Outcome Measures
Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA
Full Information
NCT ID
NCT03688594
First Posted
September 26, 2018
Last Updated
September 26, 2018
Sponsor
University Hospital, Strasbourg, France
1. Study Identification
Unique Protocol Identification Number
NCT03688594
Brief Title
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Acronym
DEFI
Official Title
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Study Type
Interventional
2. Study Status
Record Verification Date
September 2018
Overall Recruitment Status
Unknown status
Study Start Date
May 22, 2018 (Actual)
Primary Completion Date
May 22, 2019 (Anticipated)
Study Completion Date
May 23, 2019 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Strasbourg, France
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Genetic Disorders in Pregnancy
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
60 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
couple : man and pregnant women
Arm Type
Experimental
Intervention Type
Diagnostic Test
Intervention Name(s)
NIPT Test
Intervention Description
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.
Primary Outcome Measure Information:
Title
Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA)
Time Frame
Measurement will be performed at the end of the protocol (12 months)
Secondary Outcome Measure Information:
Title
Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA
Time Frame
Measurement will be performed at the end of the protocol (12 months)
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Couple (father, mother) > 18 ans
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:
DNA extraction failure
Absence of informed consent
Father or mother placed under judicial protection or under guardianship or tutorship
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Bénédicte GERARD, PharmD, PhD
Phone
03 69 55 07 77
Email
benedicte.gerard@chru-strasbourg.fr
Facility Information:
Facility Name
Hôpitaux Universitaires de Strasbourg
City
Strasbourg
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
bénédicte GERARD, PharmD, PhD
12. IPD Sharing Statement
Learn more about this trial
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
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