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

Study Overview

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

Study details

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

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions:
    Gaucher Disease, Splenomegaly, Acid SphingoMyelinase Deficiency
  • Age: - 18 Years
  • Gender: All

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:
          1. hemolytic anemia
          2. hematological malignancy
          3. portal hypertension
          4. 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.

Updated on 27 Mar 2024. Study ID: NCT04845958

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