A National Study in Patients With Unexplained Splenomegaly (SMS)

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

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

Study Overview

• Status: Completed
• Conditions: Gaucher Disease; Splenomegaly

Detailed Description

Study duration per participant is between 1 and 12 months

• Study Type: Observational
• Enrollment (Actual): 506

Contacts and Locations

Study Locations

• France
  • France, France
    • Investigational site France

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 13 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Sanofi

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2015
• Primary Completion (Actual): April 27, 2021
• Study Completion (Actual): April 27, 2021

Study Registration Dates

• First Submitted: June 11, 2020
• First Submitted That Met QC Criteria: June 11, 2020
• First Posted (Actual): June 12, 2020

Study Record Updates

• Last Update Posted (Actual): April 25, 2022
• Last Update Submitted That Met QC Criteria: April 21, 2022
• Last Verified: April 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Pathological Conditions, Anatomical; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Hypertrophy; Gaucher Disease; Splenomegaly
• Other Study ID Numbers: DIREGL07298

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No