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

NCT04433728 | Terminated

• 2 other identifiers: 2019_282020-A00437-32
• Study Type: observational
• Target: 42
• Locations: 1 country
• Sites: 1

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.

Conditions

Phenylketonurias

Keywords

Becoming neurological in adulthood; Metabolic balance during childhood; Duration and compliance with the low-protein diet

Outcome Measures

Primary Outcomes (1)

• 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 (4)

• The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.

  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)

  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

  Baseline

• The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl)

  baseline

Study Arms (1)

Adults Phenylketonuric

Adults patients screened in neonatal period for PKU and treated

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

chu de Lille

Lille, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Plasma and dried blood on blotter (dried blood spot) for Phe Rate Whole blood on EDTA for genetics

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Karine MENTION, MD,PhD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 15, 2020
• First Posted: June 16, 2020
• Study Start: December 17, 2021
• Primary Completion: September 1, 2024
• Study Completion: September 1, 2024
• Last Updated: May 22, 2026

Record last verified: 2026-05

Locations

FR (1)