Genetics of Ventriculo-arterial Discordance

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

Interventions

BIOLOGICAL

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

Sponsors & Collaborators

• Inserm UMR1087, CNRS UMR6291

  collaborator UNKNOWN

• Clinique des Données, CIC 1413, CHU Nantes

  collaborator UNKNOWN

• CIC-FEA, CIC 1413, CHU Nantes

  collaborator UNKNOWN

• Nantes University Hospital

  lead OTHER

Study Design

Allocation

NA

Purpose

OTHER

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

1 Minute

Max Age

100 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2022-09-07

Primary Completion

2025-06-24

Completion

2027-06-24

Countries

• France

Study Locations