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Clinical Trials in France / NCT06289348
Recruiting Observational

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

NCT06289348 · tracked via the Priya Life Science France tracker
Sponsor
Assistance Publique - Hôpitaux de Paris
Phase
Observational
Started
2024-05-07
Last updated
2026-06-24

Condition(s) studied

Phenylketonuria

Investigational drug(s) / intervention(s)

socio-psychological questionnairerevised event impact scale (IER-S)Non directive interviewStern interviewsemi-directive interview

socio-psychological questionnaire: ton collecte socio-demographic variable

revised event impact scale (IER-S): 22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)

Non directive interview: composed of a very broad opening sentence to encourage the parents' discourse

Stern interview: 54 questions to investigate the impact of the announcement and the parenthood construction

semi-directive interview: to propose ideas for improving and harmonizing practices

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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria: * 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 Exclusion Criteria: * Failure to master the French language. * Child screened is neither the eldest nor the first sibling to be screened. * Refusal by the parents. * Any other reason which, in the investigator's judgement, would impair the participants' ability to follow the study protocol, or the interpretation of interview data (e.g. the participating parent has a history of serious psychiatric pathology, one of the parents died at the child's birth, Couples in which one of the members suffers from a known decompensated psychiatric pathology at the time of recruitment. Couples where one of the members is under legal protection or a security measure, etc …).

Primary outcome measure(s)

  • Psychological process linked to the announcement of inherited metabolic disease for the parents — 4 and a half months
    Identifying the psychological processes at work during and following the announcement of a child's illness (interview).
  • Psychological impact of the announcement of an inherited metabolic disease on the doctors' experience — 2 hours
    interview.
  • Measuring awareness of inherited metabolic diseases detected by midwives — 1 hour
    interview.

Trial sites (1)

FacilityCityRegionStatus
Hôpital Necker Enfants Malades Paris France Recruiting

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Other trials for the same condition

Eating Disorders in Patients With Phenylketonuria Recruiting
A Study of JNT-517 in Participants With Phenylketonuria (PKU) Recruiting
A Study of Sepiapterin in Participants With Phenylketonuria (PKU) Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06289348 on ClinicalTrials.gov ↗ ← All trials in France