The Psychosocial Functioning of Adults With Phenylketonuria.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Phenylketonuria (PKU). Basic parameters: 18 years — 59 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Total score ASEBA [Time frame: single time point upon the study enrollment]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Family-based
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07406009 · 2025PI020