Congenital Heart DiseaseCARDIOMICSNCT06705543
Antenatal Investigation of Fetuses With Complex Congenital Heart Defects Using multiOMICS
A study testing multi-omics genetic analyses included exome and multi-omics genetic analyses in people with Congenital Heart Disease, run by University Hospital, Bordeaux at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Congenital Heart Disease
- What is being tested?
- multi-omics genetic analyses included exome and multi-omics genetic analyses
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 40 participants
- Where
- 2 sitesFrance
- Study dates
- 1 Apr 2025to Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
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- 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).
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
CHU de Bordeaux
Bordeaux, 33076
Caroline ROORYCK-THAMBO, PROF, caroline.rooryck-thambo@chu-bordeaux.fr
- Not yet recruiting
CHU de Nantes
Nantes, 44093
Marie VINCENT, DR, 0240087516
About this study
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.
Read the 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.
- Conditions
- Congenital Heart Disease
- Being tested
- multi-omics genetic analyses included exome, multi-omics genetic analyses
- Keywords
- Congenital Heart Disease, exome, RNAseq, methylome, biomarkers, environnemental factors, epigenetics
- Medical subject headings
- Heart Defects, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
multi-omics genetic analyses included exomeGenetic
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).
multi-omics genetic analysesGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Congenital Heart Defects population | Active comparator | Not described Receives: Genetic: multi-omics genetic analyses included exome |
| control population | Placebo comparator | Not described Receives: Genetic: multi-omics genetic analyses |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Visit 1 : day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Nov 2024
- Study start1 Apr 2025
- Primary completionJun 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Heart DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Caroline ROORYCK-THAMBO, PROF, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06705543
- Sponsor's protocol ID
- CHUBX 2024/30
- Acronym
- CARDIOMICS
- Status last verified
- Apr 2025
- First submitted
- 18 Nov 2024
- Last updated
- 10 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Antenatal Investigation of Fetuses With Complex Congenital Heart Defects Using multiOMICS
- ClinicalTrials.gov ID
- NCT06705543
- Acronym / sponsor ID
- CARDIOMICS / CHUBX 2024/30
- Conditions
- Congenital Heart Disease
- Keywords
- Congenital Heart Disease, exome, RNAseq, methylome, biomarkers, environnemental factors, epigenetics
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 1 Apr 2025 (actual)
- Primary completion
- Jun 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 26 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Congenital Heart Defects population | Active comparator | Genetic: multi-omics genetic analyses included exome |
| control population | Placebo comparator | Genetic: multi-omics genetic analyses |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (13 listed)
- 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.
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| multi-omics genetic analyses included exomeGenetic 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). | Genetic | Congenital Heart Defects population |
| multi-omics genetic analysesGenetic 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. | Genetic | control population |
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Apr 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Caroline ROORYCK-THAMBO, PROF principal investigator
University Hospital, Bordeaux
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing multi-omics genetic analyses included exome and multi-omics genetic analyses in people with Congenital Heart Disease, run by University Hospital, Bordeaux at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Caroline ROORYCK-THAMBO, PROF (+335 56 79 59 81, caroline.rooryck-thambo@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cardiac malformations biomarkers (time frame: Visit 1 : day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Apr 2025.