Antenatal Investigation of Fetuses With Complex Congenital Heart Defects Using multiOMICS

NCT06705543 | Recruiting

• 1 other identifier: CHUBX 2024/30
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 2

Brief Summary

This study will use multiOMICS study on fetuses with complexe congenital heart defects (CHD) to identify etiological epigenetic factors of these cardiac malformations, related to environmental factors during pregnancy.

Conditions

Congenital Heart Disease

Keywords

Congenital Heart Disease; exome; RNAseq; methylome; biomarkers; environnemental factors; epigenetics

Outcome Measures

Primary Outcomes (1)

• Cardiac malformations biomarkers

  Identification of biomarkers such as RNA deregulation (mRNA, LncRNA, miRNA, upregulated or deregulated compared to controls), and DNA methylation marks (present or absent, compared to controls) specific to cardiac malformations by transcriptomic and methylomic analysis of amniotic fluid from fetuses with congenital heart disease

  Visit 1 : day 0

Study Arms (2)

Congenital Heart Defects population

ACTIVE COMPARATOR

Genetic: multi-omics genetic analyses included exome

control population

PLACEBO COMPARATOR

Genetic: multi-omics genetic analyses

Interventions

multi-omics genetic analyses included exome GENETIC

Genetic analysis will be carried out on amniotic fluid from the volume collected as part of the by obstetricians working in the fetal medicine unit. These genetic analyses will include : * Study of free RNA circulating in the LA, * Methylome study. * Trio exome study (parents-fetus).

Congenital Heart Defects population

multi-omics genetic analyses GENETIC

Genetic analysis will be carried out on amniotic fluid from the volume collected as part of the by obstetricians working in the fetal medicine unit; These genetic analyses will include : * Study of free RNA circulating in the LA, * Methylome study.

control population

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Fetuses with congenital heart disease :
• Pregnant women aged 18 and more
• Single foetal pregnancy in which the foetus has a complex non-syndromic congenital heart defect, with no identified chromosomal abnormality, gene syndrome or infection.
• Patient for whom the indication for amniocentesis has been accepted by the CPDPN and accepted by the couple/patient
• Gestational age between 20 and 28 weeks' gestation.
• Person affiliated to or benefiting from a social security scheme.
• Control Population for RNAseq and MéthlySeq
• Pregnant women aged 18 and more
• Patient in whom the indication for amniocentesis has been retained by the CPDPN and accepted by the couple/patient, for a non-malformative ultrasound anomaly (hyperechoic bowel, idiopathic hydramnios, increased risk of trisomy 21, agenesis of the OPN, suspected toxoplasmosis/CMV seroconversion), with no chromosomal anomaly, gene syndrome or infection identified.
• Gestational age between 20 and 28 weeks' gestation.
• Person affiliated to or benefiting from a social security scheme.

You may not qualify if:

• For both populations (cases and controls) :
• Female minors,
• Patients not affiliated to the social security system,
• Patients who do not understand French,
• Patients under guardianship
• Multiple pregnancies, or where the foetus has associated malformations

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Study Sites (2)

CHU de Bordeaux

Bordeaux, 33076, France

RECRUITING

CHU de Nantes

Nantes, 44093, France

NOT YET RECRUITING

MeSH Terms

Conditions

Heart Defects, Congenital

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Caroline ROORYCK-THAMBO, PROF

  University Hospital, Bordeaux

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Caroline ROORYCK-THAMBO, PROF

CONTACT

+335 56 79 59 81; caroline.rooryck-thambo@chu-bordeaux.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 18, 2024
• First Posted: November 26, 2024
• Study Start: April 1, 2025
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: April 10, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)