SeDeN-p3: Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line

Sponsor

Centre Hospitalier Universitaire Dijon (Other)

Overall Status

Completed

CT.gov ID

NCT06111456

Collaborator

(none)

1,585

Enrollment

Locations

Actual Duration (Months)

396.3

Patients Per Site

44.2

Patients Per Site Per Month

Study Details

Study Description

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.).

Condition or Disease	Intervention/Treatment	Phase
Expanded Newborn Screening Parental Acceptability	Other: Questionnaire Other: Interview

Study Design

Study Type:

Observational

Actual Enrollment :

1585 participants

Observational Model:

Other

Time Perspective:

Cross-Sectional

Official Title:

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

Actual Study Start Date :

Sep 1, 2022

Actual Primary Completion Date :

Jun 1, 2023

Actual Study Completion Date :

Jun 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
Population 1Q Parents or co-parents of a newborn child.	Other: Questionnaire 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. Other: Interview Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway
Population 2 Parents or co-parents whose youngest child is 1 week to 3 years old.	Other: Questionnaire 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.
Population 3 Parents or co-parents whose child had a suspicious newborn screening result that was confirmed at the diagnosis phase (except hearing).	Other: Interview Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway
Population 4 Parents or co-parents whose child was diagnosed later based on clinical signs for diseases not included in the list of diseases screening in French newborn screening, but included in the list of diseases screened in newborn screening in other countries.	Other: Interview Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway

Outcome Measures

Primary Outcome Measures

Mixed matrix of parental acceptability dimensions of expanded newborn screening (Mixed-data matrix) [November 2023]
Mixed method design used to measure parental acceptability composed of quantitative and qualitative data

Secondary Outcome Measures

Parental acceptability scores for expanded newborn screening (Theorical Framework of Acceptability scores in self-administered questionnaire to measure parental acceptability) [November 2023]
Typology of parental acceptability scores for expanded newborn screening (Classification) [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]
(5-point Likert scale for agreement and thematic content analysis of the free comment areas)
Parent's views on the use of genetic testing in expanded newborn screening (Likert scales) [November 2023]
Description of acceptability of expanded newborn screening to parents of a sick child (Thematic content analysis) [April 2024]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 60 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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)

Contacts and Locations

Locations

	Site	City	Country	Postal Code
1	Hopital Antoine Beclere - Aphp	Clamart	France	92140
2	Chu Dijon Bourgogne	Dijon	France	21000
3	Hôpital Necker - Enfants Malades	Paris	France	75015
4	Groupe Hospitalier de La Haute-Saône	Vesoul	France	70000

Sponsors and Collaborators

Centre Hospitalier Universitaire Dijon

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Centre Hospitalier Universitaire Dijon

ClinicalTrials.gov Identifier:

NCT06111456

Other Study ID Numbers:

OLIVIER-FAIVRE 2021-2

First Posted:

Nov 1, 2023

Last Update Posted:

Nov 1, 2023

Last Verified:

Oct 1, 2023

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Study Results

No Results Posted as of Nov 1, 2023