Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
Recruiting
Observational Study
Phenylketonuria
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 80 (estimated)
- Sponsor
- Assistance Publique - Hôpitaux de Paris · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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…
Trial Locations
Loading…
Loading trial locations…
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 ma…
Contacts