The Psychosocial Functioning of Adults With Phenylketonuria.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 30
- 主要终点
- Total score ASEBA
研究概览
简要总结
Current recommendations are to maintain Phe levels < 360 µmol/L throughout life (US consensus) or < 600 µmol/L from the age of 12 (European consensus). Nevertheless, these recommendations do not take into account the individuality of each PKU patient who, in reality, reacts differently to Phe levels, with some patients with high levels (> 1200 µmol/L) escaping the neurological consequences of high Phe levels without this being well understood (OJRD 2018; 13: 149. Can untreated PKU patients escape from intellectual disability? A systematic review). It is therefore unclear what blood levels of phenylalanine are required during adolescence and adulthood to maintain an optimal cognitive, emotional and neurophysiological state in individual PKU patients, depending on their personal responsiveness to Phe.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 59 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age ≥ 18 years and < 59 years (age limit for ASEBA questionnaire)
- •Person being monitored for PKU / HMP
- •Relative living with the person
- •Person who has received full information on the organization of the research and has not objected to the use of this data
- •Compulsory membership of a social security scheme
- •Age ≥ 18 years
- •Person who has received full information on the organization of the research and has not objected to the use of this data
- •Compulsory membership of a social security scheme
排除标准
- •Refusal or linguistic, physical or psychological incapacity to to participate in the study
- •Subjects under court protection
- •Subjects under guardianship or curatorship
研究组 & 干预措施
Patient
Relative
结局指标
主要结局
Total score ASEBA
时间窗: single time point upon the study enrollment
Total score ASEBA
次要结局
未报告次要终点