Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.
Status: Recruiting
Location: See location...
Intervention Type: Other, Behavioral
Study Type: Observational
SUMMARY
The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the systematic neonatal screening (DNS), in terms of the parents' experience, but also on the part of the medical team, in order to improve its process and the support it provides for the announcement of the diagnosis.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:
• Parent or doctor of a child screened for PKU, born during the inclusion phase of the study
• Family's first exposure to PKU: the PKU child must be either the eldest or the first sibling to be diagnosed with PKU following neonatal screening
Locations
Other Locations
France
Hôpital Necker Enfants Malades
RECRUITING
Paris
Contact Information
Primary
Pascale DELONLAY, MD, PhD
pascale.delonlya@aphp.fr
+33 1 44 49 48 52
Backup
Aminata TRAORE
aminata.traore6@aphp.fr
+33 1 42 19 27 34
Time Frame
Start Date: 2024-05-07
Estimated Completion Date: 2027-05-20
Participants
Target number of participants: 80
Treatments
groupe 1
60 parents of children screened for PKU. Each of them will be assessed using a socio-psychological questionnaire (7 days after the announcement) and the revised event impact scale (7 days, 4 and a half months).
groupe 2
25 parents from group 1. This smaller sample of 25 parents will be subjected to non-directive interviews (1 month after the announcement) and to the Stern interview (4 and a half months after the announcement).
groupe 3
15 doctors : interview
groupe 4
5 midwifes : short interview
Related Therapeutic Areas
Sponsors
Collaborators: URC-CIC Paris Descartes Necker Cochin
Leads: Assistance Publique - Hôpitaux de Paris