Fabry Aim Children Early (ACE) Project
- Conditions
- Fabry Disease
- Interventions
- Diagnostic Test: Screening for Fabry disease
- Registration Number
- NCT04965467
- Lead Sponsor
- Children's Hospital of Fudan University
- Brief Summary
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
- Detailed Description
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 (Ξ±-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.
Recruitment & Eligibility
- Status
- WITHDRAWN
- Sex
- All
- Target Recruitment
- Not specified
- 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.
- Patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Screening population Screening for Fabry disease Screening for Fabry disease with early symptoms
- Primary Outcome Measures
Name Time Method The proportion of Fabry disease at the enrollment The proportion of Fabry Disease in a defined population at risk
- Secondary Outcome Measures
Name Time Method The proportion of Fabry disease in predefined sub-populations at the enrollment The proportion of Fabry Disease in a defined population at risk
The time between symptom onset and diagnosis at the enrollment The time between symptom onset and diagnosis
Trial Locations
- Locations (21)
Anhui Provincial Children's Hospital
π¨π³Hefei, Anhui, China
Shandong Provincal Hospital
π¨π³Shandong, Shandong, China
Shanxi Provincial Maternity and Children's Hospital
π¨π³Shanxi, Shanxi, China
Beijing children's hospitalοΌcapital medical university
π¨π³Beijing, Beijing, China
Children's Hospital of Chongqing Medical University
π¨π³Chongqing, Chongqing, China
Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
π¨π³Zhengzhou, Henan, China
First Affiliated Hospital, Sun Yat-Sen University
π¨π³Guangzhou, Guangzhou, China
Children's Hospital of Hebei Province
π¨π³Hebei, Hebei, China
West China Second University Hospital, Sichuan University
π¨π³Chengdu, Sichuan, China
Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
π¨π³Wuhan, Hubei, China
Hunan Children's Hospital
π¨π³Hunan, Hunan, China
Inner Mongolia Maternity and Child Healthcare Hospital
π¨π³Hohhot, Inner Mongolia Autonomous Region, China
Children's Hospital of Nanjing Medical University
π¨π³Nanjing, Jiangsu, China
Kunming Children's Hospital
π¨π³Kunming, Kunming, China
Sichuan provincial maternity and child health care hospital
π¨π³Sichuan, Sichuan, China
Tianjin Children's Hospital
π¨π³Tianjin, Tianjin, China
The Children's Hospital of Zhejiang University School of Medicine
π¨π³Hangzhou, Zhejiang, China
Xiamen Maternal and Child Care Hospital
π¨π³Xiamen, Xiamen, China
Xinjiang Urumqi Children's Hospital.
π¨π³Xinjiang, Xinjiang, China
Xian Children's Hospital
π¨π³Xi'an, Xian, China
Children's Hospital of Fudan University
π¨π³Shanghai, China