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Genetics of Ventriculo-arterial Discordance (PreciPed)

Primary Purpose

Heart Defects, Congenital

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Genetic analyses: whole genome sequencing
Sponsored by
Nantes University Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional other trial for Heart Defects, Congenital focused on measuring Congenital heart disease, Ventriculo-arterial discordance, Transposition of the great arteries, Transposition congenitally corrected of the great arteries, Genetic, Whole genome sequencing

Eligibility Criteria

1 Minute - 100 Years (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

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
  • Patients under guardianship/curatorship
  • Patients with State Medical Aid
  • Refusal of consent by the patient and/or one of the two parents

Sites / Locations

  • CHU MarseilleRecruiting
  • CHU RennesRecruiting
  • CHU BordeauxRecruiting
  • CHU ToulouseRecruiting
  • CHU de Lille
  • Groupe Hospitalier St Joseph - Hôpital Marie LannelongueRecruiting
  • CHU NantesRecruiting
  • Hôpital Nord Laennec
  • CHU AngersRecruiting
  • CHU NancyRecruiting
  • Intercard LilleRecruiting
  • CHU de Caen
  • CHU LyonRecruiting
  • CHU RouenRecruiting
  • CHU ToursRecruiting
  • Hôpital Européen Georges PompidouRecruiting

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Congenital heart disease

Arm Description

Outcomes

Primary Outcome Measures

Identification new genes/variants involved in congenital heart disease with transposition congenitally corrected of the great arteries, based on whole genome sequencing of familial trios.
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis

Secondary Outcome Measures

Evaluation the diagnostic contribution of parental cardiovascular screening in case of ventriculo-arterial discordance (transposition of the great arteries, transposition congenitally corrected of the great arteries) in the index case.
Evolution of diagnostic performance for congenital heart disease in relatives of the index case with ventriculo-arterial discordance following the introduction of parental screening.
Identification new familial forms of ventriculo-arterial discordance.
Identification of genotype/phenotype relationships by studying associations between clinical features and identified genetic variants.
Identification epigenetic modifications by analysis of the epigenome of sporadic forms when genome sequencing is not contributory.
Detection of epigenetic modifications.
Identification allelic variants associated with prognosis and/or response to treatment, with the aim of eventually developing a precision medicine programme in paediatric cardiology
Identification of genotype/phenotype relationships in relation to prognosis and/or response to treatment
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
To document quality of life longitudinally in this patient population using Pediatric Quality of Life InventoryTM (scale from 0 to 4 ; 4 being the worst outcome)
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
To document quality of life longitudinally in this patient population using The Short Form (36) Health Survey (scale from 1 to 6 ; 6 being the worst outcome)

Full Information

First Posted
March 22, 2022
Last Updated
August 3, 2023
Sponsor
Nantes University Hospital
Collaborators
Inserm UMR1087, CNRS UMR6291, Clinique des Données, CIC 1413, CHU Nantes, CIC-FEA, CIC 1413, CHU Nantes
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1. Study Identification

Unique Protocol Identification Number
NCT05330338
Brief Title
Genetics of Ventriculo-arterial Discordance
Acronym
PreciPed
Official Title
Genetics of Ventriculo-arterial Discordance: Towards a PRECIsion Medicine in PEDiatric Cardiology
Study Type
Interventional

2. Study Status

Record Verification Date
August 2023
Overall Recruitment Status
Recruiting
Study Start Date
September 7, 2022 (Actual)
Primary Completion Date
October 1, 2024 (Anticipated)
Study Completion Date
October 1, 2042 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Nantes University Hospital
Collaborators
Inserm UMR1087, CNRS UMR6291, Clinique des Données, CIC 1413, CHU Nantes, CIC-FEA, CIC 1413, CHU Nantes

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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: 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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Heart Defects, Congenital
Keywords
Congenital heart disease, Ventriculo-arterial discordance, Transposition of the great arteries, Transposition congenitally corrected of the great arteries, Genetic, Whole genome sequencing

7. Study Design

Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Model Description
600 participants (150 single cases and 150 trio families)
Masking
None (Open Label)
Allocation
N/A
Enrollment
600 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Congenital heart disease
Arm Type
Other
Intervention Type
Biological
Intervention Name(s)
Genetic analyses: whole genome sequencing
Intervention Description
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis
Primary Outcome Measure Information:
Title
Identification new genes/variants involved in congenital heart disease with transposition congenitally corrected of the great arteries, based on whole genome sequencing of familial trios.
Description
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis
Time Frame
24 months
Secondary Outcome Measure Information:
Title
Evaluation the diagnostic contribution of parental cardiovascular screening in case of ventriculo-arterial discordance (transposition of the great arteries, transposition congenitally corrected of the great arteries) in the index case.
Description
Evolution of diagnostic performance for congenital heart disease in relatives of the index case with ventriculo-arterial discordance following the introduction of parental screening.
Time Frame
24 months
Title
Identification new familial forms of ventriculo-arterial discordance.
Description
Identification of genotype/phenotype relationships by studying associations between clinical features and identified genetic variants.
Time Frame
24 months
Title
Identification epigenetic modifications by analysis of the epigenome of sporadic forms when genome sequencing is not contributory.
Description
Detection of epigenetic modifications.
Time Frame
24 months
Title
Identification allelic variants associated with prognosis and/or response to treatment, with the aim of eventually developing a precision medicine programme in paediatric cardiology
Description
Identification of genotype/phenotype relationships in relation to prognosis and/or response to treatment
Time Frame
20 years
Title
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
Description
To document quality of life longitudinally in this patient population using Pediatric Quality of Life InventoryTM (scale from 0 to 4 ; 4 being the worst outcome)
Time Frame
20 years
Title
Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents
Description
To document quality of life longitudinally in this patient population using The Short Form (36) Health Survey (scale from 1 to 6 ; 6 being the worst outcome)
Time Frame
20 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
1 Minute
Maximum Age & Unit of Time
100 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Alban Baruteau
Phone
02 40 08 77 42
Email
albanelouen.baruteau@chu-nantes.fr
Facility Information:
Facility Name
CHU Marseille
City
Marseille
State/Province
Bouches-du-Rhône
ZIP/Postal Code
13000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Caroline Ovaert
Facility Name
CHU Rennes
City
Rennes
State/Province
Bretagne
ZIP/Postal Code
35000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Clémence Le Seven
Facility Name
CHU Bordeaux
City
Bordeaux
State/Province
Gironde
ZIP/Postal Code
33000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Pascal Amedro
Facility Name
CHU Toulouse
City
Toulouse
State/Province
Haute-Garonne
ZIP/Postal Code
31000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Clément Karsenty
Facility Name
CHU de Lille
City
Lille
State/Province
Hauts-de-France
ZIP/Postal Code
59000
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
François Godart
First Name & Middle Initial & Last Name & Degree
François Godart
Facility Name
Groupe Hospitalier St Joseph - Hôpital Marie Lannelongue
City
Le Plessis-Robinson
State/Province
Hauts-de-Seine
ZIP/Postal Code
92350
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Sébastien Hascoet
Facility Name
CHU Nantes
City
Nantes
State/Province
Loire-Atlantique
ZIP/Postal Code
44000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Alban Baruteau
Phone
02 40 08 77 42
Email
albanelouen.baruteau@chu-nantes.fr
First Name & Middle Initial & Last Name & Degree
Alban Baruteau
Facility Name
Hôpital Nord Laennec
City
Saint-Herblain
State/Province
Loire-Atlantique
ZIP/Postal Code
44093
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Laurianne Le Gloan
Facility Name
CHU Angers
City
Angers
State/Province
Maine-et-Loire
ZIP/Postal Code
49000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Anne-Sophie Lety
Facility Name
CHU Nancy
City
Nancy
State/Province
Meurthe-et-Moselle
ZIP/Postal Code
54000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Gilles Bosser
Facility Name
Intercard Lille
City
Lille
State/Province
Nord
ZIP/Postal Code
59000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Guy Vaksmann
Facility Name
CHU de Caen
City
Caen
State/Province
Normandie
ZIP/Postal Code
14000
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Fabien Labombarda
First Name & Middle Initial & Last Name & Degree
Fabien Labombarda
Facility Name
CHU Lyon
City
Lyon
State/Province
Rhône
ZIP/Postal Code
69000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Claire Bertail-Galoin
Facility Name
CHU Rouen
City
Rouen
State/Province
Seine-Maritime
ZIP/Postal Code
76000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Tristan Hazelzet
Facility Name
CHU Tours
City
Tours
State/Province
Val De Loire
ZIP/Postal Code
37000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Bruno Lefort
Facility Name
Hôpital Européen Georges Pompidou
City
Paris
ZIP/Postal Code
75000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Magalie Ladouceur

12. IPD Sharing Statement

Plan to Share IPD
No

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Genetics of Ventriculo-arterial Discordance

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