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Fabry Aim Children Early (ACE) Project

2021年9月24日更新者：Children's Hospital of Fudan University

Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk

The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.

研究概览

地位

撤销

条件

法布里病

干预/治疗

诊断测试：Screening for Fabry disease

详细说明

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.

研究类型

观察性的

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习地点

中国
- - Shanghai、中国、201102
    - Children's Hospital of Fudan University
- Anhui
  - Hefei、Anhui、中国
    - Anhui Provincial Children's Hospital
- Beijing
  - Beijing、Beijing、中国
    - Beijing Children's Hospital,Capital Medical University
- Chongqing
  - Chongqing、Chongqing、中国
    - Children's Hospital of Chongqing Medical University
- Guangzhou
  - Guangzhou、Guangzhou、中国
    - First Affiliated Hospital, Sun Yat-Sen University
- Hebei
  - Hebei、Hebei、中国
    - Children's Hospital of Hebei Province
- Henan
  - Zhengzhou、Henan、中国
    - Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
- Hubei
  - Wuhan、Hubei、中国
    - Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
- Hunan
  - Hunan、Hunan、中国
    - Hunan Children's Hospital
- Inner Mongolia Autonomous Region
  - Hohhot、Inner Mongolia Autonomous Region、中国
    - Inner Mongolia Maternity and Child Healthcare Hospital
- Jiangsu
  - Nanjing、Jiangsu、中国
    - Children's Hospital of Nanjing Medical University
- Kunming
  - Kunming、Kunming、中国
    - Kunming Children's Hospital
- Shandong
  - Shandong、Shandong、中国
    - Shandong Provincal Hospital
- Shanxi
  - Shanxi、Shanxi、中国
    - Shanxi Provincial Maternity and Children's Hospital
- Sichuan
  - Chengdu、Sichuan、中国
    - West China Second University Hospital, Sichuan University
  - Sichuan、Sichuan、中国
    - Sichuan provincial maternity and child health care hospital
- Tianjin
  - Tianjin、Tianjin、中国
    - Tianjin Children's Hospital
- Xiamen
  - Xiamen、Xiamen、中国
    - Xiamen Maternal and Child Care Hospital
- Xian
  - Xi'an、Xian、中国
    - Xian Children's Hospital
- Xinjiang
  - Xinjiang、Xinjiang、中国
    - Xinjiang Urumqi Children's Hospital.
- Zhejiang
  - Hangzhou、Zhejiang、中国
    - The Children's Hospital of Zhejiang University School of Medicine

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

不超过 18年 (孩子、成人)

接受健康志愿者

不

有资格学习的性别

全部

取样方法

概率样本

研究人群

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.

描述

Inclusion Criteria:

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.

Exclusion Criteria:

Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

团体/队列数

队列和干预

团体/队列	干预/治疗
Screening population Screening for Fabry disease with early symptoms	诊断测试：Screening for Fabry disease A questionnaire specifically designed to assess 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. The questionnaire consisted mainly of quantitative, closed questions with pre- defined response options.The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010). In females plasma Gb3, globotriaosyl- sphingosine (lyso-Gb3) will be measured for screening.

团体/队列

干预/治疗

Screening population

Screening for Fabry disease with early symptoms

诊断测试：Screening for Fabry disease

A questionnaire specifically designed to assess 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. The questionnaire consisted mainly of quantitative, closed questions with pre- defined response options.The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010). In females plasma Gb3, globotriaosyl- sphingosine (lyso-Gb3) will be measured for screening.

研究衡量的是什么？

主要结果指标

结果测量	措施说明	大体时间
The proportion of Fabry disease 大体时间：at the enrollment	The proportion of Fabry Disease in a defined population at risk	at the enrollment

次要结果测量

结果测量	措施说明	大体时间
The proportion of Fabry disease in predefined sub-populations 大体时间：at the enrollment	The proportion of Fabry Disease in a defined population at risk	at the enrollment
The time between symptom onset and diagnosis 大体时间：at the enrollment	The time between symptom onset and diagnosis	at the enrollment