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

NCT ID: NCT06111456

Last Updated: 2023-11-01

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 1585 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-09-01
• Study Completion Date: 2023-06-01

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.).

Conditions

Expanded Newborn Screening; Parental Acceptability

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Population 1Q

Parents or co-parents of a newborn child.

Questionnaire

Intervention Type: 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

Intervention Type: 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

Population 2

Parents or co-parents whose youngest child is 1 week to 3 years old.

Questionnaire

Intervention Type: 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.

Population 3

Parents or co-parents whose child had a suspicious newborn screening result that was confirmed at the diagnosis phase (except hearing).

Interview

Intervention Type: 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

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.

Interview

Intervention Type: 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

Interventions

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.

Intervention Type: 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

Intervention Type: OTHER

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)

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Centre Hospitalier Universitaire Dijon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Hopital Antoine Beclere - Aphp

Clamart, , France

Chu Dijon Bourgogne

Dijon, , France

Hôpital Necker - Enfants Malades

Paris, , France

Groupe Hospitalier de La Haute-Saône

Vesoul, , France

Countries

France

Other Identifiers

OLIVIER-FAIVRE 2021-2

Identifier Type: -

Identifier Source: org_study_id