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

  • End date
    Jul 29, 2024
  • participants needed
  • sponsor
Updated on 29 July 2021


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


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

Condition Gaucher Disease, Splenomegaly, Acid SphingoMyelinase Deficiency, Acid SphingoMyelinase Deficiency, Gaucher Disease, Splenomegaly
Clinical Study IdentifierNCT04845958
Last Modified on29 July 2021


Yes No Not Sure

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
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