A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen

Study Overview
=================
Brief Summary
-----------------
Primary Objective: To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g. portal hypertension, haematological malignancy, hemolytic anemia, infection) based on clinical examination and routine biological tests (full blood count, reticulocytes, liver tests, abdominal ultrasound, Coombs test and Epstein Barr virus serology). Secondary Objectives: To describe the rate of each identified disease category and the rate of patients with no final diagnosis at the end of the study in pediatric patients with unexplained SMG after exclusion of first intention diagnoses To describe the characteristics (clinical, lab, genetics) of all pediatric patients included in the study and to describe the characteristics subdivided by identified disease category and absence of final diagnosis at the end of the study

Detailed Description
-----------------
The planned duration of this study is 39 months, which includes 36 months of patient recruitment.

Official Title
-----------------
An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly

Conditions
-----------------
Gaucher Disease, Splenomegaly, Acid SphingoMyelinase Deficiency

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion criteria: Patient under the age of 18 years Patient with unexplained SMG (SMG defined as a palpable spleen, already known or discovered for the first time) and who has undergone tests to eliminate obvious causes of SMG Exclusion criteria: Patient with any obvious cause of SMG as described by clinical examination and/or lab or imaging test available in medical records and/or having been diagnosed with any of the following conditions: hemolytic anemia hematological malignancy portal hypertension infectious disease associated with SMG (Cytomegalovirus, Epstein Barr virus, leishmaniasis or other obvious infectious cause revealed by the medical history) The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Ages Eligible for Study
-----------------
Minimum Age: 0 Years
Maximum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pediatric Patients with Unexplained Enlarged Spleen<br> | |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Percentage of patients diagnosed with GD among enrolled patients | Diagnosis of GD based on deficient β-glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, or genetic analysis. | Up to 3 months after inclusion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rate of each identified disease category at the end of the study among enrolled patients |  | Up to 3 months after inclusion | 
| Rate of patients with no final diagnosis at the end of the study among enrolled patients |  | Up to 3 months after inclusion | 
| Number of patients based on specific char. (clinical, lab, genetics) | Detailed characteristics of all patients included in the study (clinical, lab, genetics) will be evaluated | Up to 3 months after inclusion |