Gaucher Disease, Splenomegaly
Conditions
Brief summary
Primary Objective: To estimate the prevalence of Gaucher disease and of other etiologies, in patients of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g. portal hypertension, diagnosis or suspicion of haematological malignancy, haemolytic anemia) based on basic physical and biological exams (e.g. full blood count, liver enzymes, reticulocytes) Secondary Objective: To describe the exams and tests conducted for diagnosis purpose and the more frequent associations
Detailed description
Study duration per participant is between 1 and 12 months
Interventions
None listed
Sponsors
Sanofi
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
15 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Participants referred for the first time for splenomegaly exploration defined as : * Either a palpable mass on left upper abdominal quadrant, further confirmed by a ≥ 13 cm craniocaudal length on abdominal Imaging * Or a non palpable splenomegaly discovered on abdominal imaging and with a craniocaudal length ≥ 13 cm * Participants with splenomegaly (as defined above) of unknown origin
Exclusion criteria
* Participants with obvious diagnostics based on clinical exam, patient's interview and the previous initial routine biological tests : * Diagnosis of portal hypertension * Diagnosis of hemolytic anemia * Diagnosis of hematological malignancy * Known diagnosis of Gaucher Disease 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 Gaucher disease in the included population of patients with unexplained splenomegaly | between 1 and 12 months | The diagnosis of Gaucher Disease is based on a value of beta-glucosidase enzyme activity |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of patients with other than Gaucher disease-etiologies in the included population | between 1 and 12 months | These will be any etiology among all the diseases that can be considered in the differential diagnosis of unexplained splenomegaly, e.g.: infection, haematological, congestive, inflammatory, neoplastic, infiltrative, benign tumors, immune, iron deficiencies and other miscellaneous rare causes |
| Number of participants by type of exams and tests conducted for diagnosis purpose | between 1 and 12 months | Relevant exams and tests performed, in each site, for the participant diagnosis other than Gaucher disease will be reported , this may include dried blood spot, medullary biopsy, imaging exploration |
Countries
France
Outcome results
None listed