Antenatal Investigation of Fetuses With Complex Congenital Heart Defects Using multiOMICS (CARDIOMICS)

April 9, 2025 updated by: University Hospital, Bordeaux
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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

Congenital heart defects (CHDs) are a very heterogeneous group of heart diseases in terms of embryonic mechanisms, phenotypes and aetiologies. In isolated forms, genetic causes are identified in only 19% of cases, linked to chromosomal abnormalities (8%) or gene variants (11%). Environmental causes such as infection, exposure to toxic substances or ingestion of teratogenic substances may also favour the onset of MCC. Although in the majority of cases the aetiology remains unknown, the discovery of MCC in the ante-natal period almost systematically leads to a genetic aetiological work-up using amniotic fluid for karyotype, Array-CGH and, more recently, exome analysis. With regard to environmental causes, recent data in the literature report a link between environmental exposures (occupational, extra-occupational or medicinal) and congenital anomalies.

Objectives: The low percentage of genetic abnormalities and toxic factors identified as causal in patients with non-syndromic CHD prompts a search for more complex causes such as epigenetic modifications linked to an interaction between genes and environmental factors.

Methods: The multi-omics study approach, using high-throughput sequencing technologies (exome, RNASeq, methylSeq), provides a wealth of information on cellular and/or tissue signaling pathways in response to exposure. Integrated analysis of transcriptomes and methylomes has demonstrated the occurrence of combined defects in gene expression and methylation following toxic exposure. The period of CHD formation during embryonic development prompts us to look for epigenetic modifications during prenatal period, as close as possible to the pathophysiological mechanisms leading to this malformation.

Expected results: the multi-omics analysis applied to fetuses with non-syndromic complex CHD, combined with the characterization of occupational and non-occupational environmental exposures, will enable us to extend the etiological search for these malformations, to identify biomarkers linked to the occurrence and severity of these malformations and gain a better understanding of the pathophysiological mechanisms linked to CHD.

In the longer term, this study will serve as a basis for large-scale studies to enable the development of prevention policies, based on exhaustive, multicenter cohorts. In addition, multi-omics studies could identify gene markers, by exome, transcriptome and/or methylome, which could then be studied in a targeted manner.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
40

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • France
      • Bordeaux, France, 33076
      • Nantes, France, 44093
        • Not yet recruiting
        • CHU de Nantes
        • Contact:
          • Marie VINCENT, DR
          • Phone Number: 0240087516

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

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.
  • Free, informed and express consent (confirmed in writing) (at the latest on the day of inclusion and before any examination required by the research).

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.
  • Free, informed and express consent (confirmed in writing) (at the latest on the day of inclusion and before any examination required by the research).

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Active Comparator: Congenital Heart Defects population
Genetic: multi-omics genetic analyses included exome

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).
Placebo Comparator: control population
Genetic: multi-omics genetic analyses

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.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Cardiac malformations biomarkers
Time Frame: Visit 1 : day 0
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University Hospital, Bordeaux

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Caroline ROORYCK-THAMBO, PROF, University Hospital, Bordeaux

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
April 1, 2025

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 1, 2026

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 1, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
November 18, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 21, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 26, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
April 10, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 9, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • CHUBX 2024/30

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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