Clinical trial NCT06111456: Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line
Official title: Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Expanded Newborn Screening
Parental Acceptability
Lead sponsor: Centre Hospitalier Universitaire Dijon
Sponsor class: OTHER
First posted: 2023-11-01
Enrollment: 1585
Sex: ALL
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Parents or co-parents in France with a sick child or not

Brief summary: 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.).


Eligibility criteria: Inclusion Criteria:

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
  * Glucose-6-phophate dehydrogenase deficiency
  * X-linked Adrenoleukodystrophy
  * Spinal muscular atrophy linked to SMN1
  * S, beta-thalassemia

Exclusion Criteria:

* 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)

Primary outcomes:
measure: Mixed matrix of parental acceptability dimensions of expanded newborn screening (Mixed-data matrix)
timeFrame: November 2023
Secondary outcomes:
measure: Parental acceptability scores for expanded newborn screening (Theorical Framework of Acceptability scores in self-administered questionnaire to measure parental acceptability)
timeFrame: November 2023
measure: Typology of parental acceptability scores for expanded newborn screening (Classification)
timeFrame: November 2023
measure: Measure of importance given to different modalities of information about newborn screening (by whom, when, how, etc.) (Multiple Choice Questions)
timeFrame: November 2023
measure: Parent opinion on newborn screening for Spinal Muscular Atrophy, Duchenne muscular dystrophy, BRCA-related breast and ovarian cancer predisposition syndrome and congenital long QT
timeFrame: November 2023
measure: Parent's views on the use of genetic testing in expanded newborn screening (Likert scales)
timeFrame: November 2023
measure: Description of acceptability of expanded newborn screening to parents of a sick child (Thematic content analysis)
timeFrame: April 2024
Other outcomes:
Locations:
city: Clamart
country: France
facility: Hopital Antoine Beclere - Aphp
city: Dijon
country: France
facility: Chu Dijon Bourgogne
city: Paris
country: France
facility: Hôpital Necker - Enfants Malades
city: Vesoul
country: France
facility: Groupe Hospitalier de La Haute-Saône
Study officials:
References: