Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 21
- 主要终点
- The proportion of Fabry disease
研究概览
简要总结
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
详细描述
Fabry disease is a complex, multisystemic and clinically heterogeneous disease that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described. Symptoms can occur in early childhood, before age 5 years. Incidence estimations of Fabry disease vary widely. The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease. The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms. Patients would benefit from early diagnosis, appropriate treatment, follow-up and surveillance. Early detection of Fabry patients would also benefit affected relatives, many of whom do not have a clear diagnosis of their clinical condition.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with fabry disease-associated phenotypes in infancy, childhood and adolescence: pain in the hands and feet, angiokeratomas, hypohidrosis, corneal whorls, unexplained renal failure, unexplained hypertrophic myocardiopathy and unexplained early onset stroke.
排除标准
- •Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.
结局指标
主要结局
The proportion of Fabry disease
时间窗: at the enrollment
The proportion of Fabry Disease in a defined population at risk
次要结局
- The proportion of Fabry disease in predefined sub-populations(at the enrollment)
- The time between symptom onset and diagnosis(at the enrollment)