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

NCT03688594 | Unknown

• 1 other identifier: 6792
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Genetic Disorders in Pregnancy

Outcome Measures

Primary Outcomes (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)

  Measurement will be performed at the end of the protocol (12 months)

Secondary Outcomes (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

  Measurement will be performed at the end of the protocol (12 months)

Study Arms (1)

couple : man and pregnant women

EXPERIMENTAL

Diagnostic Test: NIPT Test

Interventions

NIPT Test DIAGNOSTIC_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.

couple : man and pregnant women

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• DNA extraction failure
• Absence of informed consent
• Father or mother placed under judicial protection or under guardianship or tutorship

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Hôpitaux Universitaires de Strasbourg

Strasbourg, France

RECRUITING

Central Study Contacts

Bénédicte GERARD, PharmD, PhD

CONTACT

03 69 55 07 77; benedicte.gerard@chru-strasbourg.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 26, 2018
• First Posted: September 28, 2018
• Study Start: May 22, 2018
• Primary Completion: May 22, 2019
• Study Completion: May 23, 2019
• Last Updated: September 28, 2018

Record last verified: 2018-09

Locations

FR (1)