The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria (FreqPHEncy) - a Single-center Randomized Cross-over Clinical Trial
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 36
- 试验地点
- 1
- 主要终点
- Change in Phe concentration in the DBS measurement
研究概览
简要总结
Recommendations regarding the frequency of phenylalanine level monitoring lack solid support from evidence derived from prospective randomized trials, including in the adult population with classic PKU. Current recommendations indicate that in adults (excluding the period of pregnancy planning and pregnancy itself), Phe levels should be assessed at least once a month or more frequently if additional indications exist. As part of this study, we plan to obtain, for the first time, high-quality data on the impact of Phe monitoring frequency on Phe control in adults. The primary objective of the study will be to assess the effect of the frequency (once a week versus once a month) of Phe level measurements on the metabolic control of phenylketonuria, as expressed by Phe concentration in DBS, in adult patients with the classic form of phenylketonuria.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 65 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Informed consent to participate in the study
- •Male or female participants aged ≥18 and ≤65 years
- •Clinical diagnosis of classic phenylketonuria (PKU) documented in the medical history by at least 2 measurements of blood phenylalanine concentration
- •≥600 μmol/l and a predicted PAH enzyme activity <1% (GPV), requiring treatment with a low-protein diet supplemented with special low-phenylalanine amino acid mixtures
- •Blood phenylalanine concentration in the range of 360-900 μmol/l during current therapy at the time of screening, and blood phenylalanine concentration in the range of 360-900 μmol/L during current treatment, based on the arithmetic mean of the last 3 Phe measurements from the participant's medical history (including the value from the screening)
- •Ability and willingness, in the investigator's opinion, to comply with all requirements of the study.
排除标准
- •1. Patients who have not followed a phenylalanine (Phe)-restricted diet for 6 months prior to the start of the study or who are not willing to continue this diet
- •Phe concentration > 900 μmol/L in any measurement taken within 6 months prior to the start of the study
- •Drug or alcohol abuse
- •A person who, in the investigator's opinion, is unable or unwilling to comply with the study requirements. Persons who are legally incapacitated will not be eligible to participate in the study
- •Current participation in another clinical trial or use of any experimental drug within 30 days prior to screening
- •Planning a pregnancy or being pregnant
- •Confirmed diagnosis of primary BH4 deficiency, documented by the presence of pathogenic mutations in both alleles of the following genes: 6-pyroyl-tetrahydrobiopterin synthase, recessive guanosine triphosphate (GTP) cyclohydrolase, sepiapterin reductase, dihydropteridine quinonoid reductase, or pterin 4 alpha-carbinolamine dehydratase
- •Use of sapropterin, sepiapterin, or pegvaliaza concurrently or within 365 days prior to screening
研究组 & 干预措施
Sequence 1
Sequence 1 starts with intervention period 1 with DBS Phe measurements once a week for 24 weeks, followed by a 2-week wash-out period and intervention period 2 with DBS Phe measurements once a month for 24 weeks.
干预措施: DBS Phe monitoring once weekly (Other)
Sequence 1
Sequence 1 starts with intervention period 1 with DBS Phe measurements once a week for 24 weeks, followed by a 2-week wash-out period and intervention period 2 with DBS Phe measurements once a month for 24 weeks.
干预措施: DBS Phe monitoring once monthly (Other)
Sequence 2
Sequence 2 starts with intervention period 1 with DBS Phe measurements once a month for 24 weeks, followed by a 2-week wash-out period and intervention period 2 with DBS Phe measurements once a week for 24 weeks.
干预措施: DBS Phe monitoring once weekly (Other)
Sequence 2
Sequence 2 starts with intervention period 1 with DBS Phe measurements once a month for 24 weeks, followed by a 2-week wash-out period and intervention period 2 with DBS Phe measurements once a week for 24 weeks.
干预措施: DBS Phe monitoring once monthly (Other)
结局指标
主要结局
Change in Phe concentration in the DBS measurement
时间窗: from the baseline (O1) to the 5th and 6th months in each intervention period (average of measurements O140 and O168 [measurements once a month] OR O119 O168 [measurements taken once a week]).
Change in Phe concentration in the DBS measurement from the baseline (O1) to the 5th and 6th months in each intervention period (average of measurements O140 and O168 \[measurements once a month\] OR O119 O168 \[measurements taken once a week\]).
次要结局
未报告次要终点
研究者
Michał Kania
Acting Head of the Rare Metabolic Diseases Laboratory Chair of Metabolic Diseases Jagiellonian University Medical College, Kraków, Poland
Jagiellonian University