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

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.

Study Overview

• Status: Terminated
• Conditions: Phenylketonurias

• Study Type: Observational
• Enrollment (Actual): 42

Contacts and Locations

Study Locations

• France
  • Lille, France
    • CHU de Lille

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

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

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Adults Phenylketonuric; Adults patients screened in neonatal period for PKU and treated

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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 Outcome Measures

Outcome Measure	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)
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)	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	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	baseline

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Investigators: Principal Investigator: Karine MENTION, MD,PhD, University Hospital, Lille

Study record dates

Study Major Dates

• Study Start (Actual): December 17, 2021
• Primary Completion (Actual): September 1, 2024
• Study Completion (Actual): September 1, 2024

Study Registration Dates

• First Submitted: May 15, 2020
• First Submitted That Met QC Criteria: June 15, 2020
• First Posted (Actual): June 16, 2020

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 20, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Becoming neurological in adulthood; Metabolic balance during childhood; Duration and compliance with the low-protein diet
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Amino Acid Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Phenylketonurias
• Other Study ID Numbers: 2019_28; 2020-A00437-32 (Other Identifier: ID-RCB number,ANSM)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No