An Observational, Cross-sectional Study Into the Future Cardiovascular Disease (CVD) Risk of Phenylketonuria (PKU) Patients on a Low Phenylalanine Treatment Diet (LPD).
试验速览
- 阶段
- 不适用
- 入组人数
- 32
- 试验地点
- 1
- 主要终点
- A single carotid-intima media thickness (CIMT) measurement in Phenylketonuria (PKU) participants and the corresponding age- and gender-matched controls.
研究概览
简要总结
This study will assess the cardiovascular disease (CVD) risk in Phenylketonuria (PKU) patients on a low-phenylalanine diet (LPD).
Ultrasound tests, diet information and routine blood samples will be collected once per patient at their next outpatient appointment.
32 adults with PKU will be studied and compared to reference data for healthy people. The results will show if the PKU CVD risk differs from healthy people, and if CVD risk varies within people with PKU.
详细描述
Cardiovascular disease (CVD) is the largest cause of deaths worldwide each year. Many factors affect CVD including diet, genetics, exercise and smoking. It is unclear if Phenylketonuria (PKU) and the low-phenylalanine diet (LPD) affect CVD risk.
CVD risk can be predicted by measuring the thickness of the artery wall in the neck which supplies blood to the head. Thickness is measured using a non-invasive, safe ultrasound test (similar to pregnancy jelly scans). A wall thicker than normal indicates an increased CVD risk. A wall thinner than normal indicates a lower CVD risk.
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 60 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Phenylketonuria patients at Guys and St Thomas' Centre for Inherited Metabolic Diseases, who have a diagnosis of Phenylketonuria at birth (following the introduction of the newborn screening programme), and who are over the age of 18 will be invited to take part in the study.
- •The study will only include patients diagnosed at birth, which will allow a better assessment of the effects of the diet, which are not influenced by a late diagnosis and a prior diet which is not low-Phenylalanine.
排除标准
- •Phenylketonuria patients at Guys and St Thomas' Centre for Inherited Metabolic Diseases, who have a diagnosis of Phenylketonuria after birth (not diagnosed during newborn screening), will be excluded from taking part in the study.
- •If patients are pregnant, or plan to be pregnant during the study they will also be excluded.
- •Patients with a previous history of cardiovascular disease, and/or a history of cardiovascular disease in their immediate family will also be excluded.
- •Patients that are unable to understand and consent to the study (i.e. due to language issues or lacking capacity) will also be excluded.
结局指标
主要结局
A single carotid-intima media thickness (CIMT) measurement in Phenylketonuria (PKU) participants and the corresponding age- and gender-matched controls.
时间窗: 10 minutes
A single CIMT measurement in PKU participants at their most recent outpatient appointment, and the corresponding age- and gender-matched CIMT, generated from the male (1) or female (2) equation for a healthy population using each participants' age and gender (Engelen et al., 2013).
次要结局
- Pulse Wave Velocity (PWV)(10 minutes)
- Ankle brachial pressure index (ABPI)(10 minutes)
- Vitamin B12 levels from blood sample(5 minutes)
- Blood Phenylalanine levels(5 minutes)
- Blood low-density lipoprotein (LDL) cholesterol levels(5 minutes)
- Diet diary and diet questionnaire (Mediterranean Adherence Screener, 0-14 scale, 14 indicating full adherence, 0 indicating no adherence)(3 days)