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

NCT ID: NCT04845958

Last Updated: 2025-09-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-06-30

Study Completion Date

2024-11-25

Brief Summary

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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

Detailed Description

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The planned duration of this study is 39 months, which includes 36 months of patient recruitment.

Conditions

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Gaucher Disease, Splenomegaly Acid SphingoMyelinase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Pediatric Patients with Unexplained Enlarged Spleen

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

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:

1. hemolytic anemia
2. hematological malignancy
3. portal hypertension
4. 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.
Minimum Eligible Age

0 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Sanofi

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Clinical Sciences & Operations

Role: STUDY_DIRECTOR

Sanofi

Locations

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Investigational Site Number 2500036

Amiens, , France

Site Status

Investigational Site Number 2500014

Angers, , France

Site Status

Investigational Site Number 2500034

Argenteuil, , France

Site Status

Investigational Site Number 2500039

Bayonne, , France

Site Status

Investigational Site Number 2500015

Besançon, , France

Site Status

Investigational Site Number 2500003

Bordeaux, , France

Site Status

Investigational Site Number 2500038

Brest, , France

Site Status

Investigational Site Number 2500026

Caen, , France

Site Status

Investigational Site Number 2500018

Chambéry, , France

Site Status

Investigational Site Number 2500009

Clermont-Ferrand, , France

Site Status

Investigational Site Number 2500008

Colombes, , France

Site Status

Investigational Site Number 2500028

Créteil, , France

Site Status

Investigational Site Number 2500006

Dijon, , France

Site Status

Investigational Site Number 2500010

Gleizé, , France

Site Status

Investigational Site Number 2500031

Jossigny, , France

Site Status

Investigational Site Number 2500040

La Rochelle, , France

Site Status

Investigational Site Number 2500007

La Tronche, , France

Site Status

Investigational Site Number 2500030

Limoges, , France

Site Status

Investigational Site Number 2500001

Lyon, , France

Site Status

Investigational Site Number 2500032

Mantes-la-Jolie, , France

Site Status

Investigational Site Number 2500005

Marseille, , France

Site Status

Investigational Site Number 2500027

Meaux, , France

Site Status

Investigational Site Number 2500002

Montpellier, , France

Site Status

Investigational Site Number 2500021

Nantes, , France

Site Status

Investigational Site Number 2500019

Nice, , France

Site Status

Investigational Site Number 2500022

Nîmes, , France

Site Status

Investigational Site Number 2500016

Paris, , France

Site Status

Investigational Site Number 2500013

Perpignan, , France

Site Status

Investigational Site Number 2500035

Poissy, , France

Site Status

Investigational Site Number 2500011

Poitiers, , France

Site Status

Investigational Site Number 2500029

Reims, , France

Site Status

Investigational Site Number 2500023

Rennes, , France

Site Status

Investigational Site Number 2500037

Roubaix, , France

Site Status

Investigational Site Number 2500024

Rouen, , France

Site Status

Investigational Site Number 2500017

Saint-Priest-en-Jarez, , France

Site Status

Investigational Site Number 2500004

Strasbourg, , France

Site Status

Investigational Site Number 2500033

Toulouse, , France

Site Status

Investigational Site Number 2500020

Tours, , France

Site Status

Investigational Site Number 2500025

Valenciennes, , France

Site Status

Investigational Site Number 2500012

Vandœuvre-lès-Nancy, , France

Site Status

Countries

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France

Other Identifiers

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U1111-1267-2545

Identifier Type: REGISTRY

Identifier Source: secondary_id

OBS16092

Identifier Type: -

Identifier Source: org_study_id

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