Prevalence and Determinants of Obesity in PKU Patients
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 (PKU). Basic parameters: from 18 years · 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
- Switzerland
- 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 →
Official title
Phenylketonuria Associated With Obesity: a Cross-sectional Pilot Study on Prevalence and Possible Contributive Factors
Overview
This observational cross-sectional multicenter study aims to assess the prevalence of overweight and obesity in adult patients with phenylketonuria (PKU) and to identify associated risk factors. Adult PKU patients followed in metabolic centers in Switzerland and Austria will be evaluated using clinical data, laboratory parameters, and standardized questionnaires addressing diet, physical activity, and psychological factors. The study seeks to better understand contributors to weight gain in this population to inform preventive strategies.
Primary outcome measures
- Prevalence of overweight and obesity in adult PKU patients [Time frame: At enrollment]
Secondary outcome measures (12)
- Dietary adherence in adult PKU patients (self-reported adherence questionnaire) [Time frame: At enrollment]
- Dietary intake in adult PKU patients (24-hour dietary recall) [Time frame: At enrollment]
- Disordered eating behaviors (Eating Disorder Examination Questionnaire, EDE-Q) [Time frame: At enrollment]
- Depressive symptoms (Patient Health Questionnaire-9, PHQ-9) [Time frame: At enrollment]
- Physical activity level (Global Physical Activity Questionnaire, GPAQ) [Time frame: At enrollment]
- Plasma phenylalanine levels (metabolic control) [Time frame: Retrospective (12 months prior to inclusion)]
- Plasma tyrosine levels [Time frame: Retrospective (12 months prior to inclusion)]
- Serum total cholesterol levels [Time frame: Retrospective (12 months prior to inclusion)]
- Serum triglyceride levels [Time frame: Retrospective (12 months prior to inclusion)]
- Blood glucose levels [Time frame: Retrospective (12 months prior to inclusion)]
- Thyroid-stimulating hormone (TSH) levels [Time frame: Retrospective (12 months prior to inclusion)]
- Vitamin B12 levels [Time frame: Retrospective (12 months prior to inclusion)]
Eligibility criteria
Inclusion criteria
- Confirmed diagnosis of phenylketonuria (PKU) by biochemical and/or molecular testing.
- Age ≥ 18 years.
- Ability to provide written informed consent.
Exclusion criteria
- Pregnant or lactating women.
- Inability to follow the study procedures (e.g., due to language barriers).
- Eligible participants who refuse to be informed of any important health concern discovered during the study.
- Investigators, their family members, employees, or anyone with a personal link to the investigator other than a doctor-patient relationship.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
Switzerland · 1 center
- Lausanne University Hospital — Lausanne
Publications
- Tankeu AT, Pavlidou DC, Superti-Furga A, Gariani K, Tran C. Overweight and obesity in adult patients with phenylketonuria: a systematic review. Orphanet J Rare Dis. 2023 Feb 22;18(1):37. doi: 10.1186/s13023-023-02636-2. PMID 36814307
Identifiers
NCT: NCT07703020 · 2024-01596