Status:
COMPLETED
Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Expanded Newborn Screening
Parental Acceptability
Eligibility:
All Genders
18-60 years
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 ...
Eligibility Criteria
Inclusion
- 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
- 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)
Key Trial Info
Start Date :
September 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 1 2023
Estimated Enrollment :
1585 Patients enrolled
Trial Details
Trial ID
NCT06111456
Start Date
September 1 2022
End Date
June 1 2023
Last Update
November 1 2023
Active Locations (4)
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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