A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen

NCT04845958 | Completed

• 2 other identifiers: OBS16092U1111-1267-2545
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 40

Brief Summary

Primary Objective: To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g. portal hypertension, haematological malignancy, hemolytic anemia, infection) based on clinical examination and routine biological tests (full blood count, reticulocytes, liver tests, abdominal ultrasound, Coombs test and Epstein Barr virus serology). Secondary Objectives:

• To describe the rate of each identified disease category and the rate of patients with no final diagnosis at the end of the study in pediatric patients with unexplained SMG after exclusion of first intention diagnoses
• To describe the characteristics (clinical, lab, genetics) of all pediatric patients included in the study and to describe the characteristics subdivided by identified disease category and absence of final diagnosis at the end of the study

Conditions

Gaucher Disease, Splenomegaly; Acid SphingoMyelinase Deficiency

Outcome Measures

Primary Outcomes (1)

• Percentage of patients diagnosed with GD among enrolled patients

  Diagnosis of GD based on deficient β-glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, or genetic analysis.

  Up to 3 months after inclusion

Secondary Outcomes (3)

• Rate of each identified disease category at the end of the study among enrolled patients

  Up to 3 months after inclusion

• Rate of patients with no final diagnosis at the end of the study among enrolled patients

  Up to 3 months after inclusion

• Number of patients based on specific char. (clinical, lab, genetics)

  Up to 3 months after inclusion

Study Arms (1)

Pediatric Patients with Unexplained Enlarged Spleen

Eligibility Criteria

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

Study Population

Patient under 18 year-old 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 including: hemolytic anemia, hematological malignancy, portal hypertension, infectious disease associated with SMG

You may qualify if:

• 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

You may not qualify if:

• 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:
• hemolytic anemia
• hematological malignancy
• portal hypertension
• 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.

Sponsors & Collaborators

• Sanofi: lead

Study Sites (40)

Investigational Site Number 2500036

Amiens, 80054, France

Location

Investigational Site Number 2500014

Angers, 49933, France

Location

Investigational Site Number 2500034

Argenteuil, 95107, France

Location

Investigational Site Number 2500039

Bayonne, 64100, France

Location

Investigational Site Number 2500015

Besançon, 25030, France

Location

Investigational Site Number 2500003

Bordeaux, 33000, France

Location

Investigational Site Number 2500038

Brest, 29609, France

Location

Investigational Site Number 2500026

Caen, 14033, France

Location

Investigational Site Number 2500018

Chambéry, 73000, France

Location

Investigational Site Number 2500009

Clermont-Ferrand, 63000, France

Location

Investigational Site Number 2500008

Colombes, 92700, France

Location

Investigational Site Number 2500028

Créteil, 94000, France

Location

Investigational Site Number 2500006

Dijon, 21079, France

Location

Investigational Site Number 2500010

Gleizé, 69400, France

Location

Investigational Site Number 2500031

Jossigny, 77600, France

Location

Investigational Site Number 2500040

La Rochelle, 17000, France

Location

Investigational Site Number 2500007

La Tronche, 38700, France

Location

Investigational Site Number 2500030

Limoges, 87042, France

Location

Investigational Site Number 2500001

Lyon, 69008, France

Location

Investigational Site Number 2500032

Mantes-la-Jolie, 78200, France

Location

Investigational Site Number 2500005

Marseille, 13005, France

Location

Investigational Site Number 2500027

Meaux, 77100, France

Location

Investigational Site Number 2500002

Montpellier, 34090, France

Location

Investigational Site Number 2500021

Nantes, 44000, France

Location

Investigational Site Number 2500019

Nice, 06200, France

Location

Investigational Site Number 2500022

Nîmes, 30029, France

Location

Investigational Site Number 2500016

Paris, 75012, France

Location

Investigational Site Number 2500013

Perpignan, 66000, France

Location

Investigational Site Number 2500035

Poissy, 78300, France

Location

Investigational Site Number 2500011

Poitiers, 86000, France

Location

Investigational Site Number 2500029

Reims, 51100, France

Location

Investigational Site Number 2500023

Rennes, 35203, France

Location

Investigational Site Number 2500037

Roubaix, 59056, France

Location

Investigational Site Number 2500024

Rouen, 76031, France

Location

Investigational Site Number 2500017

Saint-Priest-en-Jarez, 42270, France

Location

Investigational Site Number 2500004

Strasbourg, 67200, France

Location

Investigational Site Number 2500033

Toulouse, France

Location

Investigational Site Number 2500020

Tours, France

Location

Investigational Site Number 2500025

Valenciennes, 59300, France

Location

Investigational Site Number 2500012

Vandœuvre-lès-Nancy, 54500, France

Location

MeSH Terms

Conditions

Gaucher Disease; Splenomegaly; Niemann-Pick Diseases

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; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Clinical Sciences & Operations

  Sanofi

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: April 12, 2021
• First Posted: April 15, 2021
• Study Start: June 30, 2021
• Primary Completion: November 25, 2024
• Study Completion: November 25, 2024
• Last Updated: September 23, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share

Locations

FR (40)