Fabry Aim Children Early (ACE) Project

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

Detailed Description
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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.

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

Conditions
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Fabry Disease

Intervention / Treatment
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* Diagnostic Test: Screening for Fabry disease


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Screening population<br>Screening for Fabry disease with early symptoms | Diagnostic Test: Screening for Fabry disease<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The proportion of Fabry disease | The proportion of Fabry Disease in a defined population at risk | at the enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The proportion of Fabry disease in predefined sub-populations | The proportion of Fabry Disease in a defined population at risk | at the enrollment | 
| The time between symptom onset and diagnosis | The time between symptom onset and diagnosis | at the enrollment |