The Psychosocial Functioning of Adults With Phenylketonuria.

N/ANot Yet RecruitingNCT07406009

Central Hospital, Nancy, France30 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Phenylketonuria (PKU)

Eligibility

Sex: ALLMin age: 18 YearsMax age: 59 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

The Psychosocial Functioning of Adults With Phenylketonuria.

Overview

Conditions

Eligibility

Outcomes

Primary Outcomes

Central Contacts