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

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ClinicalTrials.gov Identifier: NCT03688594
Recruitment Status : Recruiting
First Posted : September 28, 2018
Last Update Posted : September 28, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

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.


Condition or disease Intervention/treatment Phase
Genetic Disorders in Pregnancy Diagnostic Test: NIPT Test Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 60 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Actual Study Start Date : May 22, 2018
Estimated Primary Completion Date : May 22, 2019
Estimated Study Completion Date : May 23, 2019

Resource links provided by the National Library of Medicine


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.




Primary Outcome Measures :
  1. 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 Measures :
  1. 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) ]


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03688594


Contacts
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Contact: Bénédicte GERARD, PharmD, PhD 03 69 55 07 77 benedicte.gerard@chru-strasbourg.fr

Locations
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France
Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, France
Contact: bénédicte GERARD, PharmD, PhD         
Sponsors and Collaborators
University Hospital, Strasbourg, France

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Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT03688594     History of Changes
Other Study ID Numbers: 6792
First Posted: September 28, 2018    Key Record Dates
Last Update Posted: September 28, 2018
Last Verified: September 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Intellectual Disability
Genetic Diseases, Inborn
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Neurodevelopmental Disorders
Mental Disorders