PhenylketonuriaANNPHENCT06289348
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
An observational study of Phenylketonuria, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Phenylketonuria
- What is being tested?
- socio-psychological questionnaire, revised event impact scale (IER-S) and Non directive interview
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 80 participants
- Where
- 1 siteFrance
- Study dates
- 7 May 2024to 20 May 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Parent(s) of children screened for PKU, doctors in charge of the announcement and midwives in charge of the NBS.
Who may be able to join
- 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
Who cannot join
- 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 …).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Necker Enfants Malades
Paris, 75015
Pascale DELONLAY, MD, PhD, +33 1 44 49 48 52, pascale.delonlay@aphp.fr
About this study
Official title: Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.
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.
Read the detailed description
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.
- Conditions
- Phenylketonuria
- Being tested
- socio-psychological questionnaire, revised event impact scale (IER-S), Non directive interview, Stern interview, semi-directive interview
- Keywords
- presymptomatic announcement, systematic neonatal screening, rare diseases, genetic disease, phenylketonuria, care relationship, psychological trauma, psychological impact, parent-child bonding, parenthood
- Medical subject headings
- Phenylketonurias, Rare Diseases, Genetic Diseases, Inborn, Psychological Trauma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
socio-psychological questionnaireBehavioural
ton collecte socio-demographic variable
revised event impact scale (IER-S)Behavioural
22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)
Non directive interviewOther
composed of a very broad opening sentence to encourage the parents' discourse
Stern interviewOther
54 questions to investigate the impact of the announcement and the parenthood construction
semi-directive interviewOther
to propose ideas for improving and harmonizing practices
| Study group | Role | What they receive |
|---|---|---|
| groupe 1 | 60 parents of children screened for PKU. Each of them will be assessed using a socio-psychological questionnaire (7 days after the announcement) and the revised event impact scale (7 days, 4 and a half months). Receives: Behavioral: socio-psychological questionnaire; Behavioral: revised event impact scale (IER-S) | |
| groupe 2 | 25 parents from group 1. This smaller sample of 25 parents will be subjected to non-directive interviews (1 month after the announcement) and to the Stern interview (4 and a half months after the announcement). Receives: Behavioral: socio-psychological questionnaire; Behavioral: revised event impact scale (IER-S); Other: Non directive interview; Other: Stern interview | |
| groupe 3 | 15 doctors : interview Receives: Other: semi-directive interview | |
| groupe 4 | 5 midwifes : short interview Receives: Other: semi-directive interview |
What is being measured
The primary outcome is the main question the study is designed to answer.
Psychological process linked to the announcement of inherited metabolic disease for the parents
Identifying the psychological processes at work during and following the announcement of a child's illness (interview).
Measured: 4 and a half months
Psychological impact of the announcement of an inherited metabolic disease on the doctors' experience
interview.
Measured: 2 hours
Measuring awareness of inherited metabolic diseases detected by midwives
interview.
Measured: 1 hour
Secondary outcomes (1)
Measure of the impact of the announcement on parents
Psychometric scale (IER-S )
Measured: 4 and a half months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Mar 2024
- Study start7 May 2024
- Primary completion1 May 2027 (estimated)
- Study completion20 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Céline BENSIMON, Study chair, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06289348
- Sponsor's protocol ID
- APHP230240
- Other IDs
- 2023-A00970-45
- Acronym
- ANNPHE
- Status last verified
- Jun 2026
- First submitted
- 26 Feb 2024
- Last updated
- 24 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.
- ClinicalTrials.gov ID
- NCT06289348
- Acronym / sponsor ID
- ANNPHE / APHP230240
- Conditions
- Phenylketonuria
- Keywords
- presymptomatic announcement, systematic neonatal screening, rare diseases, genetic disease, phenylketonuria, care relationship, psychological trauma, psychological impact
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 7 May 2024 (actual)
- Primary completion
- 1 May 2027 (estimated)
- Study completion
- 20 May 2027 (estimated)
- First posted
- 1 Mar 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| groupe 1 | – | Behavioral: socio-psychological questionnaire, Behavioral: revised event impact scale (IER-S)60 parents of children screened for PKU. Each of them will be assessed using a socio-psychological questionnaire (7 days after the announcement) and the revised event impact scale (7 days, 4 and a half months). |
| groupe 2 | – | Behavioral: socio-psychological questionnaire, Behavioral: revised event impact scale (IER-S), Other: Non directive interview, Other: Stern interview25 parents from group 1. This smaller sample of 25 parents will be subjected to non-directive interviews (1 month after the announcement) and to the Stern interview (4 and a half months after the announcement). |
| groupe 3 | – | Other: semi-directive interview15 doctors : interview |
| groupe 4 | – | Other: semi-directive interview5 midwifes : short interview |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Parent(s) of children screened for PKU, doctors in charge of the announcement and midwives in charge of the NBS.
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (4 listed)
- 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 …).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| socio-psychological questionnaireton collecte socio-demographic variable | Behavioural | groupe 1, groupe 2 |
| revised event impact scale (IER-S)22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely) | Behavioural | groupe 1, groupe 2 |
| Non directive interviewcomposed of a very broad opening sentence to encourage the parents' discourse | Other | groupe 2 |
| Stern interview54 questions to investigate the impact of the announcement and the parenthood construction | Other | groupe 2 |
| semi-directive interviewto propose ideas for improving and harmonizing practices | Other | groupe 3, groupe 4 |
Primary outcome
Psychological process linked to the announcement of inherited metabolic disease for the parents
Time frame: 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
Time frame: 2 hours
interview.
Measuring awareness of inherited metabolic diseases detected by midwives
Time frame: 1 hour
interview.
1 secondary outcome
Measure of the impact of the announcement on parents
Time frame: 4 and a half months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Céline BENSIMON study chair
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pascale DELONLAY, MD, PhD (+33 1 44 49 48 52, pascale.delonlya@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Psychological process linked to the announcement of inherited metabolic disease for the parents (time frame: 4 and a half months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2026.