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

NCT06289348 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2024-03-01

No results posted yet for this study

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.

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

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Céline BENSIMON · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-04-30
Primary Completion
2027-04-30
Completion
2027-04-30

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06289348 on ClinicalTrials.gov