Monogenic Diseases Clinical Trial
Official title:
Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Monogenic Diseases
The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.
Context:
Non Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal
DNA (cff-DNA) is very promising for early diagnosis of monogenic diseases. Such an approach
is a safer alternative to invasive methods of prenatal testing (amniocentesis or
choriocentesis) which entails a significant risk of miscarriage (0.5%-1%). However, technical
issues related to the characteristics of cff-DNA remain, and NIPD techniques require long
process development which are specific for a gene and/or a particular mutation.
Objectives:
The objective of this study is to complete our offer of NIPD by developing an approach on
isolated Circulating Trophoblastic Fetal Cells (CFTC) adapted to the analysis of the genes
and mutations involved in current prenatal testing requests.
Methodology :
The blood of pregnant women from 9 weeks of gestation for which a prenatal testing is
requested will be collected.
CFTC isolation using Circulating Tumor Cells (CTCs) enrichment systems will be followed by
whole genome amplification coupled to mini-exome sequencing and bioinformatic filtering that
will be specific to the prenatal testing indication.
The study will be carried out in 2 stages:
- analytical validation of the method by studying the data quality of the sequencing of
targeted genes that are frequently subject to prenatal testing (see prenatal testing
diseases list from "ABM DPN 2014" in Appendix 2).
- clinical evaluation of the method by checking the concordance between the results
obtained by our new approach versus those obtained by standard procedure (amniocentesis
or choriocentesis) for 15 pregnant women.
Expected results and perspectives:
The purpose of this study is to establish the proof of concept of a semi-universal NIPD
method based on a simple maternal blood test that could be applied on most rare diseases
requiring prenatal testing.
This NIPD approach would reduce the number of invasive procedures and thus eliminate the risk
of miscarriage due to amniocentesis or choriocentesis. It would also enable national access
to this NIPD test for a wide range of rare diseases.
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| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT03528525 -
Registry Study on Respiratory Monogenic Diseases in Chinese Children
|