A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen
Investigation of Unexplained Enlarged Spleen in Pediatric Patients
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
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Age: 18 years or below
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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:
- 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.
This study investigates the prevalence of Gaucher disease in children with unexplained enlarged spleens, also known as splenomegaly. The study focuses on children who do not have common causes for an enlarged spleen, such as portal hypertension, certain blood cancers, or infections, based on routine medical tests like blood counts and liver tests.
Participants will undergo clinical examinations and routine biological tests, including abdominal ultrasound and specific blood tests, to rule out known causes of splenomegaly. This study is observational, meaning it collects data without altering participants' usual treatment, to better understand the characteristics and prevalence of Gaucher disease and other conditions in these patients.
- Who can participate: Children under 18 years with an enlarged spleen that cannot be explained by common conditions like certain infections or blood disorders can participate.
- Study details: Participants will undergo routine tests to rule out known causes of splenomegaly. The study is observational, collecting data without changing usual treatment.
- Study timelines: The study will last 39 months.
