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NOT YET RECRUITING
NCT06289348

Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

Sponsor: Assistance Publique - Hôpitaux de Paris

View on ClinicalTrials.gov

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.

Official title: Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.

Key Details

Gender

All

Age Range

18 Years - Any

Study Type

OBSERVATIONAL

Enrollment

80

Start Date

2024-04

Completion Date

2027-04

Last Updated

2024-03-01

Healthy Volunteers

No

Conditions

Interventions

BEHAVIORAL

socio-psychological questionnaire

ton collecte socio-demographic variable

BEHAVIORAL

revised event impact scale (IER-S)

22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)

OTHER

Non directive interview

composed of a very broad opening sentence to encourage the parents' discourse

OTHER

Stern interview

54 questions to investigate the impact of the announcement and the parenthood construction

OTHER

semi-directive interview

to propose ideas for improving and harmonizing practices

Locations (1)

Hôpital Necker Enfants Malades

Paris, France