Life With Phenylketonuria. Adult Neurological Outcome of... | NCT04433728

Studies
Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.

NCT04433728

Sponsor

University Hospital, Lille

Status

Terminated

Last Update Posted

May 22, 2026Actual

Enrollment

42Actual

Phase

Not provided

Conditions

Phenylketonurias

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2020-A00437-32	Other Identifier	ID-RCB number,ANSM

Status Module

Record Verification Date

May 2026

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

sponsor decision

Expanded Access Info

Start Date

Dec 17, 2021Actual

Primary Completion Date

Sep 1, 2024Actual

Completion Date

Sep 1, 2024Actual

First Submitted Date

May 15, 2020

First Submission Date that Met QC Criteria

Jun 15, 2020

First Posted Date

Jun 16, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 20, 2026

Last Update Posted Date

May 22, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

42Actual

Label	Type	Description	Intervention Names
Adults Phenylketonuric		Adults patients screened in neonatal period for PKU and treated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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	Baseline

Secondary Outcomes

Measure	Description	Time Frame
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)	Baseline, at the last time of decline (= 8 years of low-protein diet)

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder 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

Sampling Method

Non-Probability Sample

Name	Affiliation	Role
Karine MENTION, MD,PhD	University Hospital, Lille	Principal Investigator

Condition Browse Module

MeSH Terms

ID	Term
D010661	Phenylketonurias

Ancestor Terms

ID	Term
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases
D002493	Central Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided