Prevalence and Determinants of Obesity in PKU Patients

N/AEnrolling By InvitationNCT07703020

Christel Tran100 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Phenylketonuria (PKU)

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (1)

Lausanne University Hospital

Lausanne, Canton of Vaud, Switzerland

Outcomes

Primary Outcomes

Prevalence of overweight and obesity in adult PKU patients

Defined according to WHO BMI categories (overweight: 25.0-29.9 kg/m²; obesity class I-III: ≥30.0 kg/m²)

Time frame: At enrollment

Secondary Outcomes

Dietary adherence in adult PKU patients (self-reported adherence questionnaire)

Measured as the percentage (%) of participants classified as adherent, partially adherent, or non-adherent to dietary treatment.

Time frame: At enrollment

Dietary intake in adult PKU patients (24-hour dietary recall)

Measured as daily intake (continuous variables) including total energy (kcal/day), phenylalanine (mg/day), protein (g/day), carbohydrates (g/day), lipids (g/day), and amino acid mixtures (g/day).

Time frame: At enrollment

Disordered eating behaviors (Eating Disorder Examination Questionnaire, EDE-Q)

Measured as global EDE-Q score (continuous scale).

Time frame: At enrollment

Depressive symptoms (Patient Health Questionnaire-9, PHQ-9)

Measured as total PHQ-9 score (0-27). Higher scores mean worse outcomes

Time frame: At enrollment

Physical activity level (Global Physical Activity Questionnaire, GPAQ)

Measured as total physical activity (Days-hours-minutes/week). Higher scores mean better outcome

Time frame: At enrollment

Plasma phenylalanine levels (metabolic control)

Measured as mean phenylalanine concentration (µmol/L) over the previous 12 months

Data from ClinicalTrials.gov

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