Understanding how families react when PKU is announced after newborn screening
Official title: Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.
Run by Assistance Publique - Hôpitaux de Paris · NCT06289348 · Data updated 2026-11-12
This study tests how parents and clinicians experience the PKU announcement after newborn screening and how to improve the support given at diagnosis.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 80 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | May 7, 2024 |
| Main results expected | May 1, 2027 |
| Study ends | May 20, 2027 |
| Registry record updated | June 24, 2026 |
| Trial ID | NCT06289348 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Parents or doctors of a child screened for PKU who is the eldest or first diagnosed within the inclusion window, and who speak French.
✕Probably not a fit
Families or clinicians unable to participate or express distress that would prevent reliable interviews may not benefit directly.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational project explores the psychological impact of a rare, genetic PKU diagnosis announced after systematic newborn screening in France. It uses socio-psychological questionnaires and interviews to understand both parental and medical team experiences, with the goal of improving communication and support during the diagnostic process. The study builds on a prior pilot work showing the announcement can be traumatic and seeks to describe how the care relationship evolves through adolescence. Data collection involves direct interviews and standardized scales to capture emotional and relational effects. Participants are families and clinicians involved in the PKU screening and diagnosis process within the French system.
Why it matters
Potential benefit: Findings could inform better communication strategies and support mechanisms for families facing an early-life PKU diagnosis.
How similar studies have gone: Prior work suggested the announcement can be traumatic, indicating potential for meaningful improvements with this approach.
Who can join: the full rules
Show full inclusion / exclusion 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 …).
Where it's running
-
Hôpital Necker Enfants Malades
Paris, France Recruiting
Study contacts
- Study coordinator: Pascale DELONLAY, MD, PhD
- Email: pascale.delonlya@aphp.fr
- Phone: +33 1 44 49 48 52
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Impact of a Phenylalanine-Restricted Diet on Gut Health in Children with PKU
This study looks at how a Phe-restricted diet, with or without sapropterin or sepiapterin, might affect gut health in kids with PKU.
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How Repinatrabit is processed in adults with liver or kidney impairment versus normal function
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Eating disorders in people with phenylketonuria
This study looks at whether eating disorders and BMI issues are more common in people with phenylketonuria who are followed at a French hospital.
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GenSci144 tablets early-dose study for phenylketonuria treatment
This early-phase trial tests a single dose of GenSci144 tablets in healthy adults to see if it is safe and tolerable, while also looking at how the body processes the drug.
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Immune Modulation During Palynziq Treatment in Adults
This study tests whether adding low-dose methotrexate can help people with PKU tolerate Palynziq better and achieve better blood levels of phenylalanine.
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AG-181 safety and tolerability in people with phenylketonuria
This trial will test AG-181 for safety and tolerability in people with PKU who have high blood phenylalanine and at least one R408W PAH mutation.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.