Genetics of Ventriculo-arterial Discordance: Towards a PRECIsion Medicine in PEDiatric Cardiology

RC21_0555

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: 22 years. Recruitment period: 24 months. Follow-up time per patients : 20 years Expected number of cases : 300 index cases: 150 single index cases and 150 trio families 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 20 year follow-up: * Retrieval of data from the index case * Completion of the quality of life questionnaire

2022-09-07

2025-08-01

2043-08-01

Recruiting

600

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

{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'interventionModelDescription': '600 participants (150 single cases and 150 trio families)', 'primaryPurpose': 'OTHER', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 600, 'type': 'ESTIMATED'}}

2024-03-21