Acid SphingoMyelinase Deficiency, Gaucher Disease, Splenomegaly
Conditions
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.
Interventions
None listed
Sponsors
Sanofi
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
0 Years to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 | Detailed characteristics of all patients included in the study (clinical, lab, genetics) will be evaluated |
Countries
France
Outcome results
None listed