NCT06289348 Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
| NCT ID | NCT06289348 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Assistance Publique - Hôpitaux de Paris |
| Condition | Phenylketonuria |
| Study Type | OBSERVATIONAL |
| Enrollment | 80 participants |
| Start Date | 2024-05-07 |
| Primary Completion | 2027-05-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 80 participants in total. It began in 2024-05-07 with a primary completion date of 2027-05-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
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 …).
Contact & Investigator
Céline BENSIMON
STUDY CHAIR
Assistance Publique - Hôpitaux de Paris
Frequently Asked Questions
Who can join the NCT06289348 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Phenylketonuria. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06289348 currently recruiting?
Yes, NCT06289348 is actively recruiting participants. Contact the research team at pascale.delonlya@aphp.fr for enrollment information.
Where is the NCT06289348 trial being conducted?
This trial is being conducted at Paris, France.
Who is sponsoring the NCT06289348 clinical trial?
NCT06289348 is sponsored by Assistance Publique - Hôpitaux de Paris. The principal investigator is Céline BENSIMON at Assistance Publique - Hôpitaux de Paris. The trial plans to enroll 80 participants.