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Completed

NCT Number: NCT04430881

A National Study in Patients With Unexplained Splenomegaly

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

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Key information

Conditions

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

Age range

15 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Investigational site France

France

About this study

Study duration per participant is between 1 and 12 months

Who can participate

Healthy volunteers accepted: No

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

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.

Treatment and study plan

Primary outcomes

  1. Percentage of patients diagnosed with Gaucher disease in the included population of patients with unexplained splenomegaly

    Time frame: between 1 and 12 months

    The diagnosis of Gaucher Disease is based on a value of beta-glucosidase enzyme activity

Secondary outcomes

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

    Time frame: between 1 and 12 months

    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

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

    Time frame: between 1 and 12 months

    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

Sponsors and collaborators

Lead sponsor

Sanofi

Industry

Registry information

Official study title

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

Acronym: SMS

Important dates

Study start
2015
Primary completion
2021
Study completion
2021
First posted
Jun 12, 2020
Registry last updated
Apr 25, 2022

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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