Fabry Aim Children Early (ACE) Project
- Conditions
- 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 (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.
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- WITHDRAWN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
- 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
🇨🇳Hefei, Anhui, China
Beijing children's hospital，capital medical university
🇨🇳Beijing, Beijing, China
Children's Hospital of Chongqing Medical University
🇨🇳Chongqing, Chongqing, China
First Affiliated Hospital, Sun Yat-Sen University
🇨🇳Guangzhou, Guangzhou, China
Children's Hospital of Hebei Province
🇨🇳Hebei, Hebei, China
Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital
🇨🇳Zhengzhou, Henan, China
Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology.
🇨🇳Wuhan, Hubei, China
Hunan Children's Hospital
🇨🇳Hunan, Hunan, China
Inner Mongolia Maternity and Child Healthcare Hospital
🇨🇳Hohhot, Inner Mongolia Autonomous Region, China
Children's Hospital of Nanjing Medical University
🇨🇳Nanjing, Jiangsu, China
Scroll for more (11 remaining)Anhui Provincial Children's Hospital🇨🇳Hefei, Anhui, China