PhenylketonuriasPCUNCT04433728
Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.
An observational study of Phenylketonurias, run by University Hospital, Lille at 1 site in France.
Trial summary
You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Phenylketonurias
- How many people
- 42 participants
- Where
- 1 siteFrance
- Study dates
- 17 Dec 2021to 1 Sep 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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: All adult patients screened in Nord Pas de Calais for PKU in the neonatal period since 1971 and treated with a diet and / or drug treatment
Who may be able to join
- Patients with classic or atypical phenylketonuria detected in the neonatal period since 1971 in the department of Nord (59) and Pas de Calais (62).
- Patients treated
- Able to receive information
- Patient beneficiary or affiliated to a social security
Who cannot join
- Patients not screened (born outside French territory) or before 1971.
- Untreated screened patients
- Patients screened for persistent benign hyperphenylalaninaemia not treated with a diet (Phenylalanine level <10 mg / dl or 600 µmol / l without diet to be confirmed)
- Associated confirmed neurological pathology other than a complication of phenylketonuria.
- Refusal to participate in the assessment of Intellectual Quotient in adulthood
- Patient screened, lost to follow-up, found, having moved to another region and not wishing to return to the CHU for follow-up.
- Inability to receive information and or express opposition
- Opposition to participation in the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Becoming Adulthood of Phenylketonuric Patients Screened in the Neonatal Period: From 1971 to the Present Day.
You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.
The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studies have been able to determinate the influence of metabolic balance and pediatric management on fate in adulthood. As you know, the current recommendations are more stringent and prolonged, without taking into account the pediatric data of today's adult patients.
The objective of this study, which is aimed at all adult patients screened and followed by Lille University Hospital, according to the same care methods, allowing a homogeneous monitoring of patients, is to assess the influence of pediatric care (duration of the diet, metabolic balance, compliance) on the future in adulthood. This retrospective and current analysis work could help refine the current recommendations.
- Conditions
- Phenylketonurias
- Keywords
- Becoming neurological in adulthood, Metabolic balance during childhood, Duration and compliance with the low-protein diet
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Adults Phenylketonuric | Adults patients screened in neonatal period for PKU and treated |
What is being measured
The primary outcome is the main question the study is designed to answer.
Adult intelligence quotient (IQ) score
Adult intelligence quotient (IQ) score assessed at the last setback in the two groups defined by the duration of the hypoprotidic diet during childhood
Measured: Baseline
Secondary outcomes (4)
The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.
The IQ score in adulthood assessed at the last time of decline according to the two subgroups treated during 8 years, defined by the target Phenylalanine level ((2-5 mg/dl versus 8-12 mg/dl)
Measured: Baseline, at the last time of decline (= 8 years of low-protein diet)
The IQ score in adulthood assessed according to the length of expanding the Diet (Phe intake) during childhood for children treated during 10 years (target Phe level 2-5 mg/dl)
The IQ score in adulthood assessed according to length (and degree) of expanding the Diet (increasing Phe intake, during 6 months whatever the Phe levels or longer according the Phe levels) during childhood for children treated during 10 years (xith target Phe level 2-5 mg/dl)
Measured: Baseline,at the last time of decline (= 10 years of low-protein diet)
The IQ score in adulthood assessed defined by the metabolic biological parameters in childhood
The IQ score in adulthood assessed at the last time of decline according to the metabolic parameters during childhood
Measured: Baseline
The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl)
The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl) in the neonatal period
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jun 2020
- Study start17 Dec 2021
- Primary completion1 Sep 2024
- Study completion1 Sep 2024
Why it stopped: sponsor decision
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe 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
- 42 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Karine MENTION, MD,PhD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04433728
- Sponsor's protocol ID
- 2019_28
- Other IDs
- 2020-A00437-32
- Acronym
- PCU
- Status last verified
- May 2026
- First submitted
- 15 May 2020
- Last updated
- 22 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Becoming Adulthood of Phenylketonuric Patients Screened in the Neonatal Period: From 1971 to the Present Day.
- ClinicalTrials.gov ID
- NCT04433728
- Acronym / sponsor ID
- PCU / 2019_28
- Conditions
- Phenylketonurias
- Keywords
- Becoming neurological in adulthood, Metabolic balance during childhood, Duration and compliance with the low-protein diet
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: sponsor decision
- Enrolment
- 42 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- 17 Dec 2021 (actual)
- Primary completion
- 1 Sep 2024 (actual)
- Study completion
- 1 Sep 2024 (actual)
- First posted
- 16 Jun 2020 (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.
You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.
The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studies have been able to determinate the influence of metabolic balance and pediatric management on fate in adulthood. As you know, the current recommendations are more stringent and prolonged, without taking into account the pediatric data of today's adult patients.
The objective of this study, which is aimed at all adult patients screened and followed by Lille University Hospital, according to the same care methods, allowing a homogeneous monitoring of patients, is to assess the influence of pediatric care (duration of the diet, metabolic balance, compliance) on the future in adulthood. This retrospective and current analysis work could help refine the current recommendations.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adults Phenylketonuric | – | –Adults patients screened in neonatal period for PKU and treated |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All adult patients screened in Nord Pas de Calais for PKU in the neonatal period since 1971 and treated with a diet and / or drug treatment
Key inclusion criteria (4 listed)
- Patients with classic or atypical phenylketonuria detected in the neonatal period since 1971 in the department of Nord (59) and Pas de Calais (62).
- Patients treated
- Able to receive information
- Patient beneficiary or affiliated to a social security
Key exclusion criteria (8 listed)
- Patients not screened (born outside French territory) or before 1971.
- Untreated screened patients
- Patients screened for persistent benign hyperphenylalaninaemia not treated with a diet (Phenylalanine level <10 mg / dl or 600 µmol / l without diet to be confirmed)
- Associated confirmed neurological pathology other than a complication of phenylketonuria.
- Refusal to participate in the assessment of Intellectual Quotient in adulthood
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Adult intelligence quotient (IQ) score
Time frame: Baseline
Adult intelligence quotient (IQ) score assessed at the last setback in the two groups defined by the duration of the hypoprotidic diet during childhood
4 secondary outcomes
The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.
Time frame: Baseline, at the last time of decline (= 8 years of low-protein diet)
The IQ score in adulthood assessed according to the length of expanding the Diet (Phe intake) during childhood for children treated during 10 years (target Phe level 2-5 mg/dl)
Time frame: Baseline,at the last time of decline (= 10 years of low-protein diet)
The IQ score in adulthood assessed defined by the metabolic biological parameters in childhood
Time frame: Baseline
The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl)
Time frame: baseline
Results and safety
The study was stopped early (reason given: sponsor decision). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2026.
Related trials for Phenylketonurias
RecruitingPhase 1
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
Phenylketonuria
RecruitingPhase 2
A Study of MZE782 in Adults With PKU
Phenylketonuria (PKU)
RecruitingPhase 3
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Phenylketonuria
Recruiting
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Carrier of Phenylketonuria, Healthy
RecruitingPhase 3
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
Phenylketonuria
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. This study is not recruiting at the moment.
Karine MENTION, MD,PhD principal investigator
University Hospital, Lille
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 Phenylketonurias, run by University Hospital, Lille 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 4 inclusion and 8 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: stopped early, as of the sponsor's last update on 22 May 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?
The study was stopped early (reason given: sponsor decision). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Adult intelligence quotient (IQ) score (time frame: Baseline). 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 22 May 2026.