A National Study in Patients With Unexplained Splenomegaly

Study Overview
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Brief Summary
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Primary Objective: To estimate the prevalence of Gaucher disease and of other etiologies, in patients of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g. portal hypertension, diagnosis or suspicion of haematological malignancy, haemolytic anemia) based on basic physical and biological exams (e.g. full blood count, liver enzymes, reticulocytes) Secondary Objective: To describe the exams and tests conducted for diagnosis purpose and the more frequent associations

Detailed Description
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Study duration per participant is between 1 and 12 months

Official Title
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The SMS Study, a National Study on Prevalence of Unexplained Splenomegaly Etiologies

Conditions
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Gaucher Disease, Splenomegaly

Participation Criteria
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Eligibility Criteria
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Inclusion criteria: Participants referred for the first time for splenomegaly exploration defined as : Either a palpable mass on left upper abdominal quadrant, further confirmed by a ≥ 13 cm craniocaudal length on abdominal Imaging Or a non palpable splenomegaly discovered on abdominal imaging and with a craniocaudal length ≥ 13 cm Participants with splenomegaly (as defined above) of unknown origin Exclusion criteria: Participants with obvious diagnostics based on clinical exam, patient's interview and the previous initial routine biological tests : Diagnosis of portal hypertension Diagnosis of hemolytic anemia Diagnosis of hematological malignancy Known diagnosis of Gaucher Disease The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Ages Eligible for Study
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Minimum Age: 15 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Percentage of patients diagnosed with Gaucher disease in the included population of patients with unexplained splenomegaly | The diagnosis of Gaucher Disease is based on a value of beta-glucosidase enzyme activity | between 1 and 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Percentage of patients with other than Gaucher disease-etiologies in the included population | These will be any etiology among all the diseases that can be considered in the differential diagnosis of unexplained splenomegaly, e.g.: infection, haematological, congestive, inflammatory, neoplastic, infiltrative, benign tumors, immune, iron deficiencies and other miscellaneous rare causes | between 1 and 12 months | 
| Number of participants by type of exams and tests conducted for diagnosis purpose | Relevant exams and tests performed, in each site, for the participant diagnosis other than Gaucher disease will be reported , this may include dried blood spot, medullary biopsy, imaging exploration | between 1 and 12 months |