Skip to main content
OpenTrials
Completed

NCT Number: NCT06111456

Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line

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.).

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Expanded Newborn Screening Parental Acceptability

Age range

18 year–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Hopital Antoine Beclere - Aphp, Clamart, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Questionnaire

Other

Online self-administered questionnaire to quantitatively mesure parental knowledge and expectations on current and expanded newborn screeing and parental acceptability of expanded newborn screening using genetic.

interview

Other

Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway

Primary outcomes

  1. Mixed matrix of parental acceptability dimensions of expanded newborn screening (Mixed-data matrix)

    Time frame: November 2023

    Mixed method design used to measure parental acceptability composed of quantitative and qualitative data

Secondary outcomes

  1. Parental acceptability scores for expanded newborn screening (Theorical Framework of Acceptability scores in self-administered questionnaire to measure parental acceptability)

    Time frame: November 2023

  2. Typology of parental acceptability scores for expanded newborn screening (Classification)

    Time frame: November 2023

  3. Measure of importance given to different modalities of information about newborn screening (by whom, when, how, etc.) (Multiple Choice Questions)

    Time frame: November 2023

  4. Parent opinion on newborn screening for Spinal Muscular Atrophy, Duchenne muscular dystrophy, BRCA-related breast and ovarian cancer predisposition syndrome and congenital long QT

    Time frame: November 2023

    (5-point Likert scale for agreement and thematic content analysis of the free comment areas)

  5. Parent's views on the use of genetic testing in expanded newborn screening (Likert scales)

    Time frame: November 2023

  6. Description of acceptability of expanded newborn screening to parents of a sick child (Thematic content analysis)

    Time frame: April 2024

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Acronym: SeDeN-p3

Important dates

Study start
2022
Primary completion
2023
Study completion
2023
First posted
Nov 1, 2023
Registry last updated
Nov 1, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.