Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities (DEFI)

September 26, 2018 updated by: University Hospital, Strasbourg, France

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

60

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Strasbourg, France
        • Recruiting
        • Hôpitaux Universitaires de Strasbourg
        • Contact:
          • bénédicte GERARD, PharmD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: couple : man and pregnant women
Diagnostic test: 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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)
Measurement will be performed at the end of the protocol (12 months)

Secondary Outcome Measures

Outcome Measure
Time Frame
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)
Measurement will be performed at the end of the protocol (12 months)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 22, 2018

Primary Completion (Anticipated)

May 22, 2019

Study Completion (Anticipated)

May 23, 2019

Study Registration Dates

First Submitted

September 26, 2018

First Submitted That Met QC Criteria

September 26, 2018

First Posted (Actual)

September 28, 2018

Study Record Updates

Last Update Posted (Actual)

September 28, 2018

Last Update Submitted That Met QC Criteria

September 26, 2018

Last Verified

September 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 6792

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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