Clinical trial NCT04845958: A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen
Official title: An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Gaucher Disease, Splenomegaly
Acid SphingoMyelinase Deficiency
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2021-04-15
Enrollment: 150
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Percentage of patients diagnosed with GD among enrolled patients
timeFrame: Up to 3 months after inclusion
Secondary outcomes:
measure: Rate of each identified disease category at the end of the study among enrolled patients
timeFrame: Up to 3 months after inclusion
measure: Rate of patients with no final diagnosis at the end of the study among enrolled patients
timeFrame: Up to 3 months after inclusion
measure: Number of patients based on specific char. (clinical, lab, genetics)
timeFrame: Up to 3 months after inclusion
Other outcomes:
Locations:
city: Amiens
country: France
facility: Investigational Site Number 2500036
city: Angers
country: France
facility: Investigational Site Number 2500014
city: Argenteuil
country: France
facility: Investigational Site Number 2500034
city: Bayonne
country: France
facility: Investigational Site Number 2500039
city: Besançon
country: France
facility: Investigational Site Number 2500015
city: Bordeaux
country: France
facility: Investigational Site Number 2500003
city: Brest
country: France
facility: Investigational Site Number 2500038
city: Caen
country: France
facility: Investigational Site Number 2500026
city: Chambéry
country: France
facility: Investigational Site Number 2500018
city: Clermont-Ferrand
country: France
facility: Investigational Site Number 2500009
city: Colombes
country: France
facility: Investigational Site Number 2500008
city: Créteil
country: France
facility: Investigational Site Number 2500028
city: Dijon
country: France
facility: Investigational Site Number 2500006
city: Gleizé
country: France
facility: Investigational Site Number 2500010
city: Jossigny
country: France
facility: Investigational Site Number 2500031
city: La Rochelle
country: France
facility: Investigational Site Number 2500040
city: La Tronche
country: France
facility: Investigational Site Number 2500007
city: Limoges
country: France
facility: Investigational Site Number 2500030
city: Lyon
country: France
facility: Investigational Site Number 2500001
city: Mantes-la-Jolie
country: France
facility: Investigational Site Number 2500032
city: Marseille
country: France
facility: Investigational Site Number 2500005
city: Meaux
country: France
facility: Investigational Site Number 2500027
city: Montpellier
country: France
facility: Investigational Site Number 2500002
city: Nantes
country: France
facility: Investigational Site Number 2500021
city: Nice
country: France
facility: Investigational Site Number 2500019
city: Nîmes
country: France
facility: Investigational Site Number 2500022
city: Paris
country: France
facility: Investigational Site Number 2500016
city: Perpignan
country: France
facility: Investigational Site Number 2500013
city: Poissy
country: France
facility: Investigational Site Number 2500035
city: Poitiers
country: France
facility: Investigational Site Number 2500011
city: Reims
country: France
facility: Investigational Site Number 2500029
city: Rennes
country: France
facility: Investigational Site Number 2500023
city: Roubaix
country: France
facility: Investigational Site Number 2500037
city: Rouen
country: France
facility: Investigational Site Number 2500024
city: Saint-Priest-en-Jarez
country: France
facility: Investigational Site Number 2500017
city: Strasbourg
country: France
facility: Investigational Site Number 2500004
city: Toulouse
country: France
facility: Investigational Site Number 2500033
city: Tours
country: France
facility: Investigational Site Number 2500020
city: Valenciennes
country: France
facility: Investigational Site Number 2500025
city: Vandœuvre-lès-Nancy
country: France
facility: Investigational Site Number 2500012
Study officials:
affiliation: Sanofi
name: Clinical Sciences & Operations
role: STUDY_DIRECTOR
References: