Phenylketonuria Associated With Obesity: a Cross-sectional Pilot Study on Prevalence and Possible Contributive Factors
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Prevalence of overweight and obesity in adult PKU patients
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of phenylketonuria (PKU) by biochemical and/or molecular testing.
- •Age ≥ 18 years.
- •Ability to provide written informed consent.
排除标准
- •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.
研究组 & 干预措施
Adult PKU patients with overweight/obesity (BMI ≥ 25 kg/m²)
This cohort includes adult patients (≥18 years) with confirmed phenylketonuria presenting with overweight or obesity according to WHO BMI criteria. This is an observational group with no intervention. Participants will undergo a one-time assessment including standardized questionnaires evaluating physical activity (GPAQ), psychological status (PHQ-9), and eating behaviors (EDE-Q), as well as a dietary assessment (24-hour recall). Clinical, demographic, treatment-related (e.g., dietary adherence, sapropterin use), and retrospective laboratory data (e.g., phenylalanine levels and metabolic parameters) will be collected to identify factors associated with excess body weight.
Adult PKU patients with normal weight (BMI <25 kg/m²)
This cohort includes adult patients (≥18 years) with confirmed phenylketonuria and normal body weight. This is an observational group with no intervention. Participants will complete the same one-time assessments as Group 1, including standardized questionnaires (GPAQ, PHQ-9, EDE-Q), dietary assessment (24-hour recall), and collection of clinical, demographic, treatment-related, and retrospective laboratory data. This group will serve as a comparator to identify factors associated with overweight and obesity in the PKU population.
结局指标
主要结局
Prevalence of overweight and obesity in adult PKU patients
时间窗: At enrollment
Defined according to WHO BMI categories (overweight: 25.0-29.9 kg/m²; obesity class I-III: ≥30.0 kg/m²)
次要结局
- Thyroid-stimulating hormone (TSH) levels(Retrospective (12 months prior to inclusion))
- Vitamin B12 levels(Retrospective (12 months prior to inclusion))
- Folate (vitamin B9) levels(Retrospective (12 months prior to inclusion))
- Sapropterin treatment exposure(At enrollment)
- Dietary adherence in adult PKU patients (self-reported adherence questionnaire)(At enrollment)
- Dietary intake in adult PKU patients (24-hour dietary recall)(At enrollment)
- Disordered eating behaviors (Eating Disorder Examination Questionnaire, EDE-Q)(At enrollment)
- Depressive symptoms (Patient Health Questionnaire-9, PHQ-9)(At enrollment)
- Physical activity level (Global Physical Activity Questionnaire, GPAQ)(At enrollment)
- Plasma phenylalanine levels (metabolic control)(Retrospective (12 months prior to inclusion))
- Plasma tyrosine levels(Retrospective (12 months prior to inclusion))
- Serum total cholesterol levels(Retrospective (12 months prior to inclusion))
- Serum triglyceride levels(Retrospective (12 months prior to inclusion))
- Blood glucose levels(Retrospective (12 months prior to inclusion))
研究者
Christel Tran
PD-Dr
University of Lausanne