Genetics of Ventriculo-arterial Discordance

NCT ID: NCT05330338

Last Updated: 2025-12-11

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 600 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-09-07
• Study Completion Date: 2027-06-24

Brief 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. 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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Congenital heart disease

Group Type: OTHER

Genetic analyses: whole genome sequencing

Intervention Type: BIOLOGICAL

Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis

Interventions

Genetic analyses: whole genome sequencing

Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis

Intervention Type: BIOLOGICAL

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

• 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

• Minimum Eligible Age: 1 Minute
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Inserm UMR1087, CNRS UMR6291

UNKNOWN

Sponsor Role: collaborator

Clinique des Données, CIC 1413, CHU Nantes

UNKNOWN

Sponsor Role: collaborator

CIC-FEA, CIC 1413, CHU Nantes

UNKNOWN

Sponsor Role: collaborator

Nantes University Hospital

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CHU Marseille

Marseille, Bouches-du-Rhône, France

CHU Rennes

Rennes, Brittany Region, France

CHU Bordeaux

Bordeaux, Gironde, France

CHU Toulouse

Toulouse, Haute-Garonne, France

CHU de Lille

Lille, Hauts-de-France, France

Groupe Hospitalier St Joseph - Hôpital Marie Lannelongue

Le Plessis-Robinson, Hauts-de-Seine, France

CHU Nantes

Nantes, Loire-Atlantique, France

Hôpital Nord Laennec

Saint-Herblain, Loire-Atlantique, France

CHU Angers

Angers, Maine-et-Loire, France

CHU Nancy

Nancy, Meurthe-et-Moselle, France

Intercard Lille

Lille, Nord, France

CHU de Caen

Caen, Normandy, France

Hôpital Européen Georges Pompidou

Paris, Paris, France

CHU Lyon

Lyon, Rhône, France

CHU Rouen

Rouen, Seine-Maritime, France

CHU Tours

Tours, Val de Loire, France

Countries

France

Other Identifiers

RC21_0555

Identifier Type: -

Identifier Source: org_study_id