Genetic analysis of congenital heart defects
Genetics of Ventriculo-arterial Discordance: Towards a PRECIsion Medicine in PEDiatric Cardiology
NA · Nantes University Hospital · NCT05330338
This study is trying to find out if certain genes are linked to specific heart defects in patients and their families by looking at their DNA.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 600 (estimated) |
| Ages | 1 Minute to 100 Years |
| Sex | All |
| Sponsor | Nantes University Hospital (other) |
| Locations | 16 sites (Marseille, Bouches-du-Rhône and 15 other locations) |
| Trial ID | NCT05330338 on ClinicalTrials.gov |
What this trial studies
This study investigates the genetic factors associated with ventriculo-arterial discordance in patients with congenital heart defects. It involves a multicentric, prospective design across 16 centers in France, aiming to recruit up to 900 individuals, including family trios of patients with specific heart conditions. Participants will undergo whole genome sequencing to identify potential genetic links to their conditions. The study is planned to last 22 years, with a recruitment period of 24 months and a follow-up time of 20 years for each patient.
Who should consider this trial
Good fit: Ideal candidates include patients with transposition of the great arteries or congenitally corrected transposition with healthy parents and no family history of congenital heart disease.
Not a fit: Patients with additional heart malformations or syndromes, or those under guardianship, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of congenital heart defects, potentially guiding personalized treatment strategies.
How similar studies have performed: Other studies have shown promise in genetic analyses of congenital heart defects, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Marseille, Bouches-du-Rhône and 15 other locations
- CHU Marseille — Marseille, Bouches-du-Rhône, France (RECRUITING)
- CHU Rennes — Rennes, Bretagne, France (RECRUITING)
- CHU Bordeaux — Bordeaux, Gironde, France (RECRUITING)
- CHU Toulouse — Toulouse, Haute-Garonne, France (RECRUITING)
- CHU de Lille — Lille, Hauts-de-France, France (RECRUITING)
- Groupe Hospitalier St Joseph - Hôpital Marie Lannelongue — Le Plessis-Robinson, Hauts-de-Seine, France (RECRUITING)
- CHU Nantes — Nantes, Loire-Atlantique, France (RECRUITING)
- Hôpital Nord Laennec — Saint-Herblain, Loire-Atlantique, France (NOT_YET_RECRUITING)
- CHU Angers — Angers, Maine-et-Loire, France (RECRUITING)
- CHU Nancy — Nancy, Meurthe-et-Moselle, France (RECRUITING)
- Intercard Lille — Lille, Nord, France (RECRUITING)
- CHU de Caen — Caen, Normandie, France (RECRUITING)
- CHU Lyon — Lyon, Rhône, France (RECRUITING)
- CHU Rouen — Rouen, Seine-Maritime, France (RECRUITING)
- CHU Tours — Tours, Val de Loire, France (RECRUITING)
- Hôpital Européen Georges Pompidou — Paris, France (RECRUITING)
Study contacts
- Study coordinator: Alban Baruteau
- Email: albanelouen.baruteau@chu-nantes.fr
- Phone: 02 40 08 77 42
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Heart Defects, Congenital, Congenital heart disease, Ventriculo-arterial discordance, Transposition of the great arteries, Transposition congenitally corrected of the great arteries, Genetic, Whole genome sequencing