ClinicalTrials.gov record NCT06289348

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 6, 2026

Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational study looks at the psychological impact when phenylketonuria (PKU) is reported after routine newborn screening. It collects questionnaires and structured interviews from parents, the doctors who make the announcement, and midwives. Participants are followed with assessments over the first months after the diagnosis is announced. The project aims to describe experiences to inform improvements in how the diagnosis is communicated and supported.

What it is studying. How the announcement of a newborn PKU finding affects parents' and clinicians' psychological experience and care relationship.

What the researchers hope to learn. Describe the psychological processes triggered by announcing a newborn PKU diagnosis to families. Measure parents' distress over time using psychometric scales. Document doctors' and midwives' experiences and gather suggestions to improve and harmonize announcement practices and family support.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Behavioral
  • socio-psychological questionnaire
  • revised event impact scale (IER-S)
Other
  • Non directive interview
  • Stern interview
  • semi-directive interview

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 …).

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

In France, newborn screening for phenylketonuria (PKU) has been offered systematically, but not compulsorily, since 1970. This enables the disease to be treated at an early stage, with presymptomatic treatment. While treatment can significantly improve the prognosis of affected children, ensuring normal cognitive development without neurological sequelae, the announcement of the suspicion of the disease and confirmation of the diagnosis can be painful, even traumatic, for parents, due in particular to the very specific context of the DNS. The screening results are not available until 10 days after the baby's birth, and given the urgency of the treatment, the announcement is made by a telephone call to the families when they have already returned home with their asymptomatic newborn. This call was made by an unknown doctor from a center of reference or competence for rare diseases (in this case hereditary metabolic diseases, HMD), whom the parents did not know, and who asked them to come to his department as a matter of urgency. This disease is not visible at the time of diagnosis, although intoxication is already present. This research follows on from a pilot study2 which showed the traumatic nature of this call, which; for the families, means that in an instant they are thrust into the field of a rare, genetic and chronic disease; for the teams, means that the care relationship will continue until the end of the patient's adolescence. 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 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. The analysis will be carried out under the responsibility of the researcher, her thesis supervisor (Dr Marco Araneda, MCU / Université Paris-Cité) and her thesis co-supervisor (Pr Pascale de Lonlay, PU-PH / APHP and Université Paris-Cité).

  • Analysis of qualitative data :

The interviews with the parents, doctors and midwives will be transcribed and then analysed using NVivo® software based on grounded theory methodology.

  • Analysis of quantitative data :

The data from the socio-psychological questionnaire will be analysed using simple, multidimensional descriptive statistics. We will carry out an analysis of variance with repeated measures (IES-R) (time 1, time 2) to estimate the impact of time and care on the level of anxietý. A probabilitý level of 5% (p ≤ 0.05) will be considered́ significant for the results of the statistical tests. Statistical calculations will be performed using SPSS v.24 software, R y Mplus v. 8.3 statistical software.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Parents will complete a socio‑psychological questionnaire and the revised Impact of Event Scale (IES‑R) soon after the announcement (about 7 days) and again at about 4.5 months; a subgroup of ~25 parents will also take part in a non‑directive interview (~1 month after announcement) and a longer Stern interview (~4.5 months). Doctors will be interviewed in a semi‑directive format (primary outcome lists a ~2‑hour time frame) and midwives will take part in shorter semi‑directive interviews (primary outcome lists a ~1‑hour time frame). Interviews are transcribed for qualitative analysis; questionnaires are used for psychometric (quantitative) analysis. There are no invasive medical procedures; overall follow‑up described in the record goes to about 4.5 months.

How the study is structured. A prospective observational cohort using questionnaires and interviews. Parents complete socio‑psychological questionnaires and the revised Impact of Event Scale at set times (examples in the record include about 7 days and 4.5 months). A subgroup of parents takes part in longer, non-directive and Stern interviews (around 1 month and 4.5 months). Doctors and midwives take part in semi-structured interviews about their experience and suggestions for practice.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on phenylketonuria

Clinical trials38 trials listed for phenylketonuriaEvery trial the registry lists for phenylketonuria, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in phenylketonuria researchLatest monthly update: September 2026. Includes: Diet supply gaps. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
May 7, 2024
Primary completion
May 1, 2027 (estimated)
Study completion
May 20, 2027 (estimated)
Target enrollment
80 participants (estimated)
Last updated on registry
Jun 24, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
  • URC-CIC Paris Descartes Necker Cochin

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials