Heart Defects, CongenitalPreciPedNCT05330338
Genetics of Ventriculo-arterial Discordance
A study testing Genetic analyses: whole genome sequencing in people with Heart Defects, Congenital, run by Nantes University Hospital at 16 sites in France.
Trial summary
Number of centres planned : 16 centres in France Type of study / Study design : Research Involving the Human Person category 2. Multicentric. Prospective Planning of the study : Total duration: 57,5 months. Recruitment period: 33.5 months. Read more about this study
- Who is it for?
- Ages 1 minute to 100 years
- Conditions the study is for
- Heart Defects, Congenital
- What is being tested?
- Genetic analyses: whole genome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 600 participants
- Where
- 16 sitesFrance
- Study dates
- 7 Sep 2022to 24 Jun 2027
- 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 1 minute to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with healthy parents and no family history of congenital heart disease (familial trio)
- Or patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with or without a history of congenital heart disease (familial form or sporadic case)
- Affiliated or beneficiaries of a social security scheme or similar
- After obtaining oral consent from patients and/or parents if applicable
- Parents (for family trios) :
- Biological parents of the child included in the PRECIPED study
Who cannot join
- Patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with hypoplastic ventricle or atrioventricular and/or ventriculoarterial valve atresia
- Patient with an identified malformation syndrome
- Patients under guardianship/curatorship
- Patients with State Medical Aid
- Refusal of consent by the patient and/or one of the two parents
Trial locations and contacts
16 sites in 1 country.
16 sites in 1 country
France16 sites
CHU Angers
Angers, Maine-et-Loire, 49000
CHU Bordeaux
Bordeaux, Gironde, 33000
CHU de Caen
Caen, Normandy, 14000
Groupe Hospitalier St Joseph - Hôpital Marie Lannelongue
Le Plessis-Robinson, Hauts-de-Seine, 92350
CHU de Lille
Lille, Hauts-de-France, 59000
Intercard Lille
Lille, Nord, 59000
CHU Lyon
Lyon, Rhône, 69000
CHU Marseille
Marseille, Bouches-du-Rhône, 13000
CHU Nancy
Nancy, Meurthe-et-Moselle, 54000
CHU Nantes
Nantes, Loire-Atlantique, 44000
Hôpital Européen Georges Pompidou
Paris, Paris, 75000
CHU Rennes
Rennes, Brittany Region, 35000
CHU Rouen
Rouen, Seine-Maritime, 76000
Hôpital Nord Laennec
Saint-Herblain, Loire-Atlantique, 44093
CHU Toulouse
Toulouse, Haute-Garonne, 31000
CHU Tours
Tours, Val de Loire, 37000
About this study
Official title: Genetics of Ventriculo-arterial Discordance: Towards a PRECIsion Medicine in PEDiatric Cardiology
Number of centres planned : 16 centres in France
Type of study / Study design : Research Involving the Human Person category 2.
Read more
Multicentric. Prospective
Planning of the study : Total duration: 57,5 months. Recruitment period: 33.5 months. Follow-up time per patients : 2 years
Expected number of cases : The study will involve a maximum of 900 individuals, from 16 centers in France300 family trios (consisting of 150 index cases and their 2 parents, healthy volunteers, N= 450 individuals)
- In the event of unavailability, refusal, non-compliance with an inclusion or exclusion criterion concerning one of the biological parents, only the index case (patient) will be included in the study without his or her parents.
The 300 index cases with ventriculo-arterial discordance will be divided into two groups: 100 double discordance cases and 200 large-vessel transpositions.
These group inclusion targets are theoretical. If the proportion of patients available for inclusion turns out to be higher than expected for one of the groups, the targets may be adjusted, while maintaining a maximum of 300 cases included (corresponding to 900 subjects if all trios are complete).
Patients and their parents will be informed of the study by their referring cardiologist, and their written consent will be obtained.
Translated with DeepL.com (free version)
Treatment, procedure, combination of procedures under consideration :
- Blood samples for genetic analyses collected at the inclusion visit for patients and parents in case of trio families
Schedule of different visits and examinations :
Inclusion visit:
- Collection of demographic, clinical data from the index case and parents
- DNA sampling for genetic research (biocollection) of the index case or family trio
- Completion of the quality of life questionnaire
Annual visit with a 2 years follow-up:
- Retrieval of data from the index case
- Completion of the quality of life questionnaire
- Conditions
- Heart Defects, Congenital
- Being tested
- Genetic analyses: whole genome sequencing
- Keywords
- Congenital heart disease, Ventriculo-arterial discordance, Transposition of the great arteries, Transposition congenitally corrected of the great arteries, Genetic, Whole genome sequencing
- Medical subject headings
- Heart Defects, Congenital, Transposition of Great Vessels, Congenitally Corrected Transposition of the Great Arteries
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic analyses: whole genome sequencingBiological
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis
| Study group | Role | What they receive |
|---|---|---|
| Congenital heart disease | Other | Not described Receives: Biological: Genetic analyses: whole genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification new genes/variants involved in congenital heart disease with transposition congenitally corrected of the great arteries, based on whole genome sequencing of familial trios.
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis
Measured: 24 months
Secondary outcomes (6)
Evaluation the diagnostic contribution of parental cardiovascular screening in case of ventriculo-arterial discordance (transposition of the great arteries, transposition congenitally corrected of the great arteries) in the index case.
Evolution of diagnostic performance for congenital heart disease in relatives of the index case with ventriculo-arterial discordance following the introduction of parental screening.
Measured: 24 months
Identification new familial forms of ventriculo-arterial discordance.
Identification of genotype/phenotype relationships by studying associations between clinical features and identified genetic variants.
Measured: 24 months
Identification epigenetic modifications by analysis of the epigenome of sporadic forms when genome sequencing is not contributory.
Detection of epigenetic modifications.
Measured: 24 months
Identification allelic variants associated with prognosis and/or response to treatment, with the aim of eventually developing a precision medicine programme in paediatric cardiology
Identification of genotype/phenotype relationships in relation to prognosis and/or response to treatment
Measured: 2 years
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
To document quality of life longitudinally in this patient population using Pediatric Quality of Life InventoryTM (scale from 0 to 4 ; 4 being the worst outcome)
Measured: 2 years
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
To document quality of life longitudinally in this patient population using The Short Form (36) Health Survey (scale from 1 to 6 ; 6 being the worst outcome)
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2022
- Study start7 Sep 2022
- Primary completion24 Jun 2025
- Study completion24 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Heart Defects, CongenitalStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe 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
- Not applicable
- Intervention model
- Single group
- Model description
- 900 participants (300 trio families)
- Masking
- None (open label)
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Inserm UMR1087, CNRS UMR6291, Clinique des Données, CIC 1413, CHU Nantes, CIC-FEA, CIC 1413, CHU Nantes
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05330338
- Sponsor's protocol ID
- RC21_0555
- Acronym
- PreciPed
- Status last verified
- Dec 2025
- First submitted
- 22 Mar 2022
- Last updated
- 11 Dec 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 11 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Ventriculo-arterial Discordance: Towards a PRECIsion Medicine in PEDiatric Cardiology
- ClinicalTrials.gov ID
- NCT05330338
- Acronym / sponsor ID
- PreciPed / RC21_0555
- Conditions
- Heart Defects, Congenital
- Keywords
- Congenital heart disease, Ventriculo-arterial discordance, Transposition of the great arteries, Transposition congenitally corrected of the great arteries, Genetic, Whole genome sequencing
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Collaborators
- Inserm UMR1087, CNRS UMR6291, Clinique des Données, CIC 1413, CHU Nantes, CIC-FEA, CIC 1413, CHU Nantes
- Study start
- 7 Sep 2022 (actual)
- Primary completion
- 24 Jun 2025 (actual)
- Study completion
- 24 Jun 2027 (estimated)
- First posted
- 15 Apr 2022 (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.
Number of centres planned : 16 centres in France
Type of study / Study design : Research Involving the Human Person category 2.
Multicentric. Prospective
Planning of the study : Total duration: 57,5 months. Recruitment period: 33.5 months. Follow-up time per patients : 2 years
Expected number of cases : The study will involve a maximum of 900 individuals, from 16 centers in France300 family trios (consisting of 150 index cases and their 2 parents, healthy volunteers, N= 450 individuals)
- In the event of unavailability, refusal, non-compliance with an inclusion or exclusion criterion concerning one of the biological parents, only the index case (patient) will be included in the study without his or her parents.
The 300 index cases with ventriculo-arterial discordance will be divided into two groups: 100 double discordance cases and 200 large-vessel transpositions.
These group inclusion targets are theoretical. If the proportion of patients available for inclusion turns out to be higher than expected for one of the groups, the targets may be adjusted, while maintaining a maximum of 300 cases included (corresponding to 900 subjects if all trios are complete).
Patients and their parents will be informed of the study by their referring cardiologist, and their written consent will be obtained.
Translated with DeepL.com (free version)
Treatment, procedure, combination of procedures under consideration :
- Blood samples for genetic analyses collected at the inclusion visit for patients and parents in case of trio families
Schedule of different visits and examinations :
Inclusion visit:
- Collection of demographic, clinical data from the index case and parents
- DNA sampling for genetic research (biocollection) of the index case or family trio
- Completion of the quality of life questionnaire
Annual visit with a 2 years follow-up:
- Retrieval of data from the index case
- Completion of the quality of life questionnaire
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- 900 participants (300 trio families)
| Arm | Type | Receives |
|---|---|---|
| Congenital heart disease | Other | Biological: Genetic analyses: whole genome sequencing |
Who may qualify
- Ages
- 1 minute to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with healthy parents and no family history of congenital heart disease (familial trio)
- Or patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with or without a history of congenital heart disease (familial form or sporadic case)
- Affiliated or beneficiaries of a social security scheme or similar
- After obtaining oral consent from patients and/or parents if applicable
- Biological parents of the child included in the PRECIPED study
Key exclusion criteria (5 listed)
- Patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with hypoplastic ventricle or atrioventricular and/or ventriculoarterial valve atresia
- Patient with an identified malformation syndrome
- Patients under guardianship/curatorship
- Patients with State Medical Aid
- Refusal of consent by the patient and/or one of the two parents
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 |
|---|---|---|
| Genetic analyses: whole genome sequencingIdentification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis | Biological | Congenital heart disease |
Primary outcome
Identification new genes/variants involved in congenital heart disease with transposition congenitally corrected of the great arteries, based on whole genome sequencing of familial trios.
Time frame: 24 months
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis
6 secondary outcomes
Evaluation the diagnostic contribution of parental cardiovascular screening in case of ventriculo-arterial discordance (transposition of the great arteries, transposition congenitally corrected of the great arteries) in the index case.
Time frame: 24 months
Identification new familial forms of ventriculo-arterial discordance.
Time frame: 24 months
Identification epigenetic modifications by analysis of the epigenome of sporadic forms when genome sequencing is not contributory.
Time frame: 24 months
Identification allelic variants associated with prognosis and/or response to treatment, with the aim of eventually developing a precision medicine programme in paediatric cardiology
Time frame: 2 years
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
Time frame: 2 years
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
Time frame: 2 years
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 11 Dec 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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
16 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic analyses: whole genome sequencing in people with Heart Defects, Congenital, run by Nantes University Hospital at 16 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 6 inclusion and 5 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: under way, not looking for participants, as of the sponsor's last update on 11 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 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. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification new genes/variants involved in congenital heart disease with transposition congenitally corrected of the great arteries, based on whole genome sequencing of familial trios. (time frame: 24 months). 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 11 Dec 2025.