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

Study of Gaucher Disease in Children with Unexplained Splenomegaly

Recruiting
18 years or below
All
Phase N/A
150 participants needed

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 or below
  • 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 16 Feb 2025. Study ID: NCT04845958

This study investigates the prevalence of Gaucher disease in children who have unexplained splenomegaly, which means an enlarged spleen without an obvious cause. Splenomegaly can be due to various conditions like infections or blood disorders, but in this study, those common causes are ruled out first using tests such as blood counts and liver tests.

Participants in the study will undergo clinical examinations and routine biological tests to identify any underlying conditions. The study will also collect information on the characteristics of the participants, such as clinical symptoms, laboratory results, and genetic data. This will help categorize different conditions or identify cases where no diagnosis is made.

  • Who can participate: Children under 18 years with an enlarged spleen and no obvious cause identified can participate if they have undergone tests to rule out common causes.
  • Study details: Participants will have clinical examinations and tests to exclude common causes of splenomegaly, with data collected on clinical and genetic characteristics.
  • Study Timelines: The study will last 39 months.

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