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Completed

NCT Number: NCT04845958

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

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

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Key information

Conditions

Gaucher Disease, Splenomegaly Acid Sphingomyelinase Deficiency Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gaucher Disease Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Hypertrophy Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Diseases Nutritional and Metabolic Diseases Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Sphingolipidoses Splenomegaly

Age range

0 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Investigational Site Number 2500036, Amiens, France

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About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Percentage of patients diagnosed with GD among enrolled patients

    Time frame: Up to 3 months after inclusion

    Diagnosis of GD based on deficient β-glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, or genetic analysis.

Secondary outcomes

  1. Rate of each identified disease category at the end of the study among enrolled patients

    Time frame: Up to 3 months after inclusion

  2. Rate of patients with no final diagnosis at the end of the study among enrolled patients

    Time frame: Up to 3 months after inclusion

  3. Number of patients based on specific char. (clinical, lab, genetics)

    Time frame: Up to 3 months after inclusion

    Detailed characteristics of all patients included in the study (clinical, lab, genetics) will be evaluated

Sponsors and collaborators

Lead sponsor

Sanofi

Industry

Registry information

Official study title

An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly

Acronym: OPPUS

Important dates

Study start
2021
Primary completion
2024
Study completion
2024
First posted
Apr 15, 2021
Registry last updated
Sep 23, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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