Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,585
- 试验地点
- 4
- 主要终点
- Mixed matrix of parental acceptability dimensions of expanded newborn screening (Mixed-data matrix)
研究概览
简要总结
The recent modifications of the French bioethics law, the therapeutic progress and the massive development of advanced genetic techniques (such Next-Generation Sequencing (NGS)) with a rapid decrease in costs imply to question the extension of Newborn Screening (NBS) to new actionable pathologies and the acceptable and relevant methods for its possible expansion. International studies are beginning to determine the potential place of NGS in NBS. In this perspective, the SeDeN project aims to fully assess the social acceptability of these issues by measuring the diversity and consistency of expectations of French health professionals, parents and public policy makers.
The SeDeN-p3 Study focuses on the opinions of parents. It aims to analyze the perception of parents in different situations: birth, early childhood, child screened in the framework of the national neonatal screening program, etc. The objective of this part is to study the understanding and expectations of parents in France regarding the extension of newborn screening as well as their preferences regarding its conditions (information, types of pathologies, screening methods, etc.).
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 60 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All populations combined:
- •Be a parent or co-parent
- •Age of parent:
- •woman between 18 and 50 years
- •man between 18 and 60 years
- •Live in metropolitan France
- •Have received information about the SeDeN-p3 Study
- •Understand the purpose of the SeDeN-p3 Study
- •Self-administered questionnaire:
- •Be able to read and answer a self-administered questionnaire in French
- •Population 1Q:
- •Have a child less than a week old
- •Have just giver birth in 1 of the partner maternity hospitals during the survey period
- •Population 2:
- •Parent or co-parent whose youngest child is between 1 week and 3 years old
- •Be part of the panel of the selected survey-sample firm
- •Semi-structured interviews
- •Can converse fluently in French
- •Accept to conduct a recorded interview
- •Population 1E (sub-population of Population 1Q)
- •Have completed the entire questionnaire
- •Population 3
- •Have a child under 5 years old (inclusive) with 1 of the following diseases :
- •Phenylketonuria
- •Congenital hypothyroidism
- •Congenital adrenal hyperplasia
- •Cystic fibrosis
- •Sickle cell disease
- •hearing loss
- •MCAD deficiency
- •glutaric aciduria type -1
- •isovaleric academia
- •LCHAD deficiency
- •carnitine deficiency
- •homocystinuria
- •leukinosis
- •tyrosinemia type 1
- •Population 4
- •Have a child under 17 years old (inclusive), with 1 of following diseases:
- •Citrullinemia type I
- •Ornithine Transcarbamylase Deficiency
- •Methylmalonic acidaemia
- •Very long-chain acyl-CoA dehydrogenase deficiency
- •Carnitine palmitoyl transferase 1 deficiency
- •Carnitine palmitoyl transferase 2 deficiency
- •Glutaric acidaemia type II
- •Galactosaemia
- •Biotinidase deficiency
- •Pompe Disease
- •Mucopolysaccharidosis Type 1
- 另有 4 项未显示
排除标准
- •Have a newborn child die during the recruitment period
- •Not speak and/or understand French
- •Refuse to participate in the SeDeN-p3 Study
- •Be under judicial protection (tutelle, curatelle, habilitation familiale et sauvegarde de justice)
结局指标
主要结局
Mixed matrix of parental acceptability dimensions of expanded newborn screening (Mixed-data matrix)
时间窗: November 2023
Mixed method design used to measure parental acceptability composed of quantitative and qualitative data
次要结局
- Parental acceptability scores for expanded newborn screening (Theorical Framework of Acceptability scores in self-administered questionnaire to measure parental acceptability)(November 2023)
- Measure of importance given to different modalities of information about newborn screening (by whom, when, how, etc.) (Multiple Choice Questions)(November 2023)
- Parent opinion on newborn screening for Spinal Muscular Atrophy, Duchenne muscular dystrophy, BRCA-related breast and ovarian cancer predisposition syndrome and congenital long QT(November 2023)
- Parent's views on the use of genetic testing in expanded newborn screening (Likert scales)(November 2023)
- Typology of parental acceptability scores for expanded newborn screening (Classification)(November 2023)
- Description of acceptability of expanded newborn screening to parents of a sick child (Thematic content analysis)(April 2024)