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

Genetic Disorders in Pregnancy Clinical Trial

— DEFI  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03688594
• Other study ID #: 6792
• Status: Recruiting
• Phase: N/A
• Start date: May 22, 2018
• Est. completion date: May 23, 2019

Study information

• Verified date: September 2018
• Source: University Hospital, Strasbourg, France
• Contact: Bénédicte GERARD, PharmD, PhD
• Phone: 03 69 55 07 77
• Email: benedicte.gerard[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 60
• Est. completion date: May 23, 2019
• Est. primary completion date: May 22, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Genetic Diseases, Inborn
• Genetic Disorders in Pregnancy
• Intellectual Disability

Intervention

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.

Locations

Country	Name	City	State
France	Hôpitaux Universitaires de Strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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)