RecruitingNCT06289348

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

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


Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

80 participants

Start Date

May 7, 2024

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Non directive interview, Stern interview, and others for people with phenylketonuria. The study is currently recruiting participants at 1 location. People eligible for this study include aged 18 Years and older.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

BEHAVIORALsocio-psychological questionnaire

ton collecte socio-demographic variable

BEHAVIORALrevised event impact scale (IER-S)

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

OTHERNon directive interview

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

OTHERStern interview

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

OTHERsemi-directive interview

to propose ideas for improving and harmonizing practices


Locations(1)

Hôpital Necker Enfants Malades

Paris, France

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NCT06289348


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