A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 7
- 试验地点
- 8
- 主要终点
- Plasma phenylalanine (Phe) concentrations
研究概览
简要总结
The objective of this study is to characterize the natural history of phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency in adults through prospective collection of clinical, cognitive, and quality of life assessments.
详细描述
Phenylalanine hydroxylase (PAH) deficiency is a rare disease caused by an inborn error of metabolism. If left untreated, PAH deficiency results in progressive, irreversible neurological impairment during infancy and early childhood.
This study is designed to collect information about important PKU-related symptoms and tests to characterize the natural history of PKU due to PAH deficiency in a selected sample of adults. No new investigational treatment will be administered to participating patients.
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
- 18 Years 至 55 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Aged 18-55 years at the time of informed consent
- •Diagnosis of PKU due to PAH deficiency
- •One plasma Phe value with a concentration of ≥ 600 μmol/L drawn at Screening and at least 1 historical Phe value ≥ 600 μmol/L in the preceding 12 months
排除标准
- •Subjects with PKU that is not due to PAH deficiency
- •Alanine aminotransferase (ALT) > 1.5x upper limit of normal (ULN) and aspartate aminotransferase (AST) >1.5x ULN
- •Alkaline phosphatase > 1.5x ULN
- •Total bilirubin > 1.5x ULN, direct bilirubin ≥ 1.5x ULN, unless associated with Gilbert's syndrome.
- •Serum creatinine > 1.5x ULN
- •Hematology values outside of the normal range (hemoglobin < 11.0 g/dL for males or < 10.0 g/dL for females; white blood cells (WBC) < 3,000/μL; absolute neutrophils < 1,500/μL; platelets < 100,000/μL)
- •Hemoglobin A1c > 6.5% or fasting glucose > 126 mg/dL
- •Any clinically significant abnormal laboratory result at Screening, as determined by the Investigator
结局指标
主要结局
Plasma phenylalanine (Phe) concentrations
时间窗: Baseline to Week 52
Change in plasma Phe concentrations throughout study duration
Plasma tyrosine (Tyr) concentrations
时间窗: Baseline to Week 52
Change in plasma Tyr concentrations throughout study duration
Quality of life (QOL), as assessed using the PKU-QOL questionnaire measures
时间窗: Baseline to Week 52
Changes in PKU-QOL
次要结局
未报告次要终点