The Psychosocial Functioning of Adults With Phenylketonuria.

ConditionPhenylketonuria (PKU)

Trial statusNot yet recruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age18-59

SponsorCentral Hospital, Nancy, France

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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

Disqualifiers

Refusal or linguistic, physical or psychological incapacity to to participate in the study

Subjects under court protection

Subjects under guardianship or curatorship

Trial population

The study will be offered to all adult subjects and their close relatives who know the person well as part of the follow-up for PKU at the Centre de Référence des maladies héréditaires du métabolisme at the Nancy CHRU. This study will be offered to a second metabolic reference center.

Trial design

Design model

Family-based

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

30 Participants

are grouped into 2 trial groups

Group A: Patient

Group B: Relative

Trial outcomes

Primary outcomes

Total score ASEBA

Time frame

single time point upon the study enrollment

Locations

This trial has no locations.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Central Hospital, Nancy, France

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: