The Psychosocial Functioning of Adults With Phenylketonuria.

NCT07406009 | Not Yet Recruiting

• 1 other identifier: 2025PI020
• Study Type: observational
• Target: 30
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Phenylketonuria (PKU)

Outcome Measures

Primary Outcomes (1)

• Total score ASEBA

  Total score ASEBA

  single time point upon the study enrollment

Study Arms (2)

Patient

Relative

Eligibility Criteria

• Age: 18 Years - 59 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Related Links

• Related Info

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Eva Feigerlova, MD, PhD, MMEd

CONTACT

+330383154796; e.feigerlova@chru-nancy.Fr

François Feillet, MD, PhD

CONTACT

+330383154796; f.feillet@chru-nancy.fr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 6, 2026
• First Posted: February 12, 2026
• Study Start: January 15, 2026
• Primary Completion (Estimated): March 15, 2027
• Study Completion (Estimated): June 15, 2027
• Last Updated: February 12, 2026

Record last verified: 2025-11