The Psychosocial Functioning of Adults With Phenylketonuria.

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07406009

Acronym

CoMet-PCU

Enrollment

Registered

2026-02-12

Start date

2026-01-15

Completion date

2027-06-15

Last updated

2026-02-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Phenylketonuria (PKU)

Brief summary

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 59 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
Total score ASEBA	single time point upon the study enrollment	Total score ASEBA

Contacts

CONTACTEva Feigerlova, MD, PhD, MMEd

e.feigerlova@chru-nancy.Fr+330383154796

CONTACTFrançois Feillet, MD, PhD

f.feillet@chru-nancy.fr+330383154796

Outcome results