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

Recruiting

• Conditions: Acid SphingoMyelinase Deficiency; Gaucher Disease, Splenomegaly

• Registration Number: NCT04845958
• Lead Sponsor: Sanofi

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

Detailed Description

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

Study Timeline

• Study First Submitted: 2021-04-12
• Study First Submitted QC: 2021-04-12
• Study First Posted: 2021-04-15
• Study Start: 2021-06-30
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-09
• Last Update Posted: 2024-10-10
• Primary Completion: 2025-09-24
• Study Completion: 2025-09-24

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Percentage of patients diagnosed with GD among enrolled patients	Up to 3 months after inclusion	Diagnosis of GD based on deficient β-glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, or genetic analysis.

Secondary Outcome Measures

Name	Time	Method
Number of patients based on specific char. (clinical, lab, genetics)	Up to 3 months after inclusion	Detailed characteristics of all patients included in the study (clinical, lab, genetics) will be evaluated
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

Trial Locations

Locations (40)

Investigational Site Number 2500036; 🇫🇷 Amiens, France

Investigational Site Number 2500014; 🇫🇷 Angers, France

Investigational Site Number 2500034; 🇫🇷 Argenteuil, France

Investigational Site Number 2500039; 🇫🇷 Bayonne, France

Investigational Site Number 2500015; 🇫🇷 Besançon, France

Investigational Site Number 2500003; 🇫🇷 Bordeaux, France

Investigational Site Number 2500038; 🇫🇷 Brest, France

Investigational Site Number 2500026; 🇫🇷 Caen, France

Investigational Site Number 2500018; 🇫🇷 Chambéry, France

Investigational Site Number 2500009; 🇫🇷 Clermont-Ferrand, France

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