Genetics of Ventriculo-arterial Discordance: Towards a PRECIsion Medicine in PEDiatric Cardiology
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 600
- 试验地点
- 32
- 主要终点
- 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.
研究概览
简要总结
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 1 Minute 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
Congenital heart disease
干预措施: Genetic analyses: whole genome sequencing (Biological)
结局指标
主要结局
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.
时间窗: 24 months
Identification of de novo genetic variants using a whole genome sequencing (WGS) approach in the context of familial trios analysis
次要结局
- Identification epigenetic modifications by analysis of the epigenome of sporadic forms when genome sequencing is not contributory.(24 months)
- 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.(24 months)
- Identification new familial forms of ventriculo-arterial discordance.(24 months)
- 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.(24 months)
- Identification new familial forms of ventriculo-arterial discordance.(24 months)
- Identification allelic variants associated with prognosis and/or response to treatment, with the aim of eventually developing a precision medicine programme in paediatric cardiology(2 years)
- Assessing the quality of life of patients with ventriculo-arterial discordance as well as their parents(2 years)
- Identification epigenetic modifications by analysis of the epigenome of sporadic forms when genome sequencing is not contributory.(24 months)