A National Study in Patients With Unexplained Splenomegaly

NCT04430881 | Completed

• 1 other identifier: DIREGL07298
• Study Type: observational
• Target: 506
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Gaucher Disease; Splenomegaly

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Percentage of patients with other than Gaucher disease-etiologies in the included population

  between 1 and 12 months

• Number of participants by type of exams and tests conducted for diagnosis purpose

  between 1 and 12 months

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Participants 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

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Sanofi: lead

Study Sites (1)

Investigational site France

France, France

Location

Related Publications (1)

• Denis G, Terriou L, Sene T, Costello R, Michaud M, Lagadec A, Bauduer F, Sanhes L, Rose C, Urbanski G, Berger MG. SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world. Orphanet J Rare Dis. 2025 Jun 6;20(1):285. doi: 10.1186/s13023-025-03768-3.

  PMID: 40481534 DERIVED

Biospecimen

Retention: NONE RETAINED

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MeSH Terms

Conditions

Gaucher Disease; Splenomegaly

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Clinical Sciences & Operations

  Sanofi

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 11, 2020
• First Posted: June 12, 2020
• Study Start: September 1, 2015
• Primary Completion: April 27, 2021
• Study Completion: April 27, 2021
• Last Updated: April 25, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will share

Locations

FR (1)