Eating Disorders in Patients 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. Basic parameters: No limits · 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
- France
- 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
The prevalence of eating disorders and BMI are significantly higher in PKU patients than in the general population. The protein-restricted diet associated with high carbohydrate intake and the severity of the genetic defect and disease can lead to weight gain in these patients; However, the link between restrictive diets, EDs, and obesity has not been demonstrated in patients with PKU. These issues remain poorly explored, meaning that patients may not be detected and treated.
Primary outcome measures
- Phenotypes related to TCA in the PCU cohort of the Reference Center for Hereditary Metabolic Diseases [Time frame: from january 2026 to january 2028]
Eligibility criteria
Inclusion criteria
- Subjects followed for PKU at Nancy University Hospital
- Subjects willing to participate
Exclusion criteria
- Subjects not villing to participate
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Case-control
Study locations
France · 1 center
- CHRU de Nancy — Nancy
Publications
- van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. European guidelines on diagnosis and treatment of phenylketonuria: First revision. Mol Genet Metab. 2025 Jun;145(2):109125. doi: 10.1016/j.ymgme.2025.109125. Epub PMID 40378670
Identifiers
NCT: NCT07698743 · 2025PI143_TCA-PCU