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Assessing Gaucher disease in children with unexplained enlarged spleen

An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly

Observational Sanofi · NCT04845958

This study is trying to find out how common Gaucher disease is in children who have an enlarged spleen that doctors can't explain after checking for other causes.

Quick facts

Study typeObservational
Enrollment150 (estimated)
Ages0 Years to 18 Years
SexAll
SponsorSanofi Industry-sponsored
Locations40 sites (Amiens and 39 other locations)
Trial IDNCT04845958 on ClinicalTrials.gov

What this trial studies

This observational study aims to evaluate the prevalence of Gaucher disease in pediatric patients who present with unexplained splenomegaly after ruling out common first-intention diagnoses. The study will involve clinical examinations and routine biological tests to identify the underlying causes of splenomegaly. Additionally, it will document the characteristics of patients and the rates of various disease categories, including those without a final diagnosis. The study is planned to last for 39 months, with 36 months dedicated to patient recruitment.

Who should consider this trial

Good fit: Ideal candidates for this study are pediatric patients under 18 years old with unexplained splenomegaly who have undergone tests to exclude obvious causes.

Not a fit: Patients with known causes of splenomegaly, such as hemolytic anemia or hematological malignancies, will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and understanding of Gaucher disease and other related conditions in children.

How similar studies have performed: While this study focuses on a specific population, similar observational studies have successfully identified disease prevalence in pediatric patients with unexplained symptoms.

Eligibility criteria

Show full inclusion / exclusion criteria 
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.

Where this trial is running

Amiens and 39 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Gaucher Disease, SplenomegalyAcid SphingoMyelinase Deficiency
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.