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

Acid SphingoMyelinase Deficiency Clinical Trial

— OPPUS  

Official title:

An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04845958
• Other study ID #: OBS16092
• Secondary ID: U1111-1267-2545
• Status: Recruiting
• Start date: June 30, 2021
• Est. completion date: September 30, 2024

Study information

• Verified date: January 2024
• Source: Sanofi
• Contact: Trial Transparency email recommended (Toll free number for US &
• Phone: 800-633-1610
• Email: Contact-Us[@]sanofi.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Description:

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: September 30, 2024
• Est. primary completion date: September 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Acid SphingoMyelinase Deficiency
• Gaucher Disease
• Gaucher Disease, Splenomegaly
• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases
• Splenomegaly

Locations

Country	Name	City	State
France	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	Investigational Site Number 2500008	Colombes
France	Investigational Site Number 2500028	Créteil
France	Investigational Site Number 2500006	Dijon
France	Investigational Site Number 2500010	Gleizé
France	Investigational Site Number 2500031	Jossigny
France	Investigational Site Number 2500040	La Rochelle
France	Investigational Site Number 2500007	La Tronche
France	Investigational Site Number 2500030	Limoges
France	Investigational Site Number 2500001	Lyon
France	Investigational Site Number 2500032	Mantes-la-Jolie
France	Investigational Site Number 2500005	Marseille
France	Investigational Site Number 2500027	Meaux
France	Investigational Site Number 2500002	Montpellier
France	Investigational Site Number 2500021	Nantes
France	Investigational Site Number 2500019	Nice
France	Investigational Site Number 2500022	Nîmes
France	Investigational Site Number 2500016	Paris
France	Investigational Site Number 2500013	Perpignan
France	Investigational Site Number 2500035	Poissy
France	Investigational Site Number 2500011	Poitiers
France	Investigational Site Number 2500029	Reims
France	Investigational Site Number 2500023	Rennes
France	Investigational Site Number 2500037	Roubaix
France	Investigational Site Number 2500024	Rouen
France	Investigational Site Number 2500017	Saint-Priest-en-Jarez
France	Investigational Site Number 2500004	Strasbourg
France	Investigational Site Number 2500033	Toulouse
France	Investigational Site Number 2500020	Tours
France	Investigational Site Number 2500025	Valenciennes
France	Investigational Site Number 2500012	Vandœuvre-lès-Nancy

Sponsors (1)

Lead Sponsor	Collaborator
Sanofi

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Percentage of patients diagnosed with GD among enrolled patients	Diagnosis of GD based on deficient ß-glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, or genetic analysis.	Up to 3 months after inclusion
Secondary	Rate of each identified disease category at the end of the study among enrolled patients		Up to 3 months after inclusion
Secondary	Rate of patients with no final diagnosis at the end of the study among enrolled patients		Up to 3 months after inclusion
Secondary	Number of patients based on specific char. (clinical, lab, genetics)	Detailed characteristics of all patients included in the study (clinical, lab, genetics) will be evaluated	Up to 3 months after inclusion