Fabry Aim Children Early (ACE) Project-Screening for Fabry Disease in a Pediatric Population at Risk
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Fabry Disease
- Sponsor
- Children's Hospital of Fudan University
- Locations
- 21
- Primary Endpoint
- The proportion of Fabry disease
- Status
- Withdrawn
- Last Updated
- 4 years ago
Overview
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.
Investigators
Eligibility Criteria
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.
Outcomes
Primary Outcomes
The proportion of Fabry disease
Time Frame: at the enrollment
The proportion of Fabry Disease in a defined population at risk
Secondary Outcomes
- The proportion of Fabry disease in predefined sub-populations(at the enrollment)
- The time between symptom onset and diagnosis(at the enrollment)