An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 3
- 主要终点
- Participants' gastrointestinal adverse events
研究概览
简要总结
This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing to take PKU sphere as part of their dietarty management.
详细描述
The aim of this study is to observe dietary management and metabolic control in women taking PKU sphere pre-conceptually and/or during pregnancy. To do this the following data points will be captured:
- Blood spot phenylalanine and tyrosine levels to measure metabolic control
- Changes to dietary management and any adaptations arising from incorporating PKU Sphere
- Compliance/adherence of patients to their recommended amount of protein substitute prescription.
- Tolerance of PKU sphere with respect to gastrointestinal (GI) symptoms and pregnancy associated nausea and vomiting.
- Acceptability of concurrent protein substitute(s) (if applicable).
- Nutritional status and weight management.
- Routine standard of care data on the final pregnancy outcome and postpartum.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) which requires dietary management during pre-conception and/or pregnancy.
- •Aged 16 years and above.
- •Following dietary management advice pre-conceptually and/or during pregnancy, aiming for phenylalanine levels of 120-250µmol/L.
- •Prior positive PKU sphere taste test completed as part of routine care.
- •Chosen to take part or full requirement of protein substitute as PKU sphere pre-conceptually and/or during pregnancy.
- •Willingly given, written, informed consent from patient.
- •Participant is, in the opinion of the investigator, able to participate and can comply with the study protocol.
排除标准
- •Conception of pregnancy without commencement of phe-restricted diet and blood phenylalanine not maintained within target range by 10 weeks' gestation.
- •Patients with known soya, milk or fish allergies / intolerance.
- •Intake of pegvaliase or large neutral amino acids within 30 days prior to screening visit.
- •Patients who are currently participating in, plan to participate in, or have participated in an interventional investigational drug, food or medical device trial within 30 days prior to screening visit.
结局指标
主要结局
Participants' gastrointestinal adverse events
时间窗: Throughout the study until one month postpartum
Participant to report any gastrointestinal (GI) symptoms and pregnancy-associated nausea and vomiting while consuming PKU Sphere.
Change in weight
时间窗: Baseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum
Weight (kg)
Change in adherence to study product intake
时间窗: Every 12 weeks from baseline during preconception (max. 2 years) and pregnancy until the end of the pregnancy
3-day diary recording compliance/adherence of patients to their prescribed amount of protein substitute.
Change in plasma amino acid profile
时间窗: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
Plasma amino acid profile
Change in blood spot phenylalanine levels
时间窗: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
Measurement of fasting phenylalanine concentrations completed once (1) to twice (2) weekly preconception (which may last for an indeterminate amount of time), twice (2) to three (3) times weekly during pregnancy and one month postpartum. Collected as dried bloodspots on Guthrie cards in the patient's own home and posted to the hospital laboratory for analysis.
Change in plasma micronutrient profile
时间窗: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
Plasma micronutrient profile
Change in blood spot tyrosine levels
时间窗: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
Measurement of fasting tyrosine concentrations completed once (1) to twice (2) weekly preconception (which may last for an indeterminate amount of time), twice (2) to three (3) times weekly during pregnancy and one month postpartum. Collected as dried bloodspots on Guthrie cards in the patient's own home and posted to the hospital laboratory for analysis.
Pregnancy outcome
时间窗: End of pregnancy
Standard of care data on the outcome of the pregnancy
次要结局
未报告次要终点