The Psychosocial Functioning of Adults With Phenylketonuria.

Current recommendations are to maintain Phe levels < 360 µmol/L throughout life (US consensus) or < 600 µmol/L from the age of 12 (European consensus). Nevertheless, these recommendations do not take into account the individuality of each PKU patient who, in reality, reacts differently to Phe levels, with some patients with high levels (> 1200 µmol/L) escaping the neurological consequences of high Phe levels without this being well understood (OJRD 2018; 13: 149. Can untreated PKU patients escape from intellectual disability? A systematic review). It is therefore unclear what blood levels of phenylalanine are required during adolescence and adulthood to maintain an optimal cognitive, emotional and neurophysiological state in individual PKU patients, depending on their personal responsiveness to Phe.

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Key information

Conditions

Phenylketonuria (PKU) Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

18 year–59 year

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients :

Age ≥ 18 years and < 59 years (age limit for ASEBA questionnaire)
Person being monitored for PKU / HMP
Relative living with the person
Person who has received full information on the organization of the research and has not objected to the use of this data
Compulsory membership of a social security scheme

Relatives:

Age ≥ 18 years
Person who has received full information on the organization of the research and has not objected to the use of this data
Compulsory membership of a social security scheme

Exclusion criteria

Refusal or linguistic, physical or psychological incapacity to to participate in the study
Subjects under court protection
Subjects under guardianship or curatorship

Treatment and study plan

Primary outcomes

Total score ASEBA

Time frame: single time point upon the study enrollment

Total score ASEBA

Study contacts

Contact information is provided by the study sponsor or research team.

Eva Feigerlova, MD, PhD, MMEd

CONTACT

[email protected]

+330383154796

François Feillet, MD, PhD

CONTACT

[email protected]

+330383154796 ext. +330383154796

Sponsors and collaborators

Lead sponsor

Central Hospital, Nancy, France

Other

Registry information

Acronym: CoMet-PCU

Important dates

Study start: 2026
Primary completion: 2027
Study completion: 2027
First posted: Feb 12, 2026
Registry last updated: Feb 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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