Genetics of Ventriculo-arterial Discordance

Launched by NANTES UNIVERSITY HOSPITAL · Apr 8, 2022

Keywords

ClinConnect Summary

This clinical trial, called "Genetics of Ventriculo-arterial Discordance," is studying heart defects, specifically a condition known as transposition of the great arteries. Researchers aim to understand the genetic factors that may contribute to this condition by collecting blood samples from patients and their families. The study will take place at 16 centers in France over a long period of 22 years, with the recruitment phase lasting 2 years and follow-up for each participant lasting 20 years. They hope to involve about 300 patients, including both individual cases and family trios (parents and their affected child).

To be eligible for this trial, patients must have transposition of the great arteries and healthy parents, with no family history of congenital heart disease, or they may have a sporadic case of the condition. Participants can expect to visit the clinic for an initial meeting where personal and health information will be collected, along with a blood sample for genetic testing. They will also complete a questionnaire about their quality of life. After that, there will be annual check-ins over 20 years to gather more data and monitor their health. This study will help improve our understanding of heart defects and may lead to better future treatments.

Gender

ALL

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