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

Brief summary (registry, in English)

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

What you commit to

• Study type: Observational
• Participants enrolled: 60
• From 30 Jun 2021 to the primary completion date, 25 Nov 2024
• 40 sites in 1 country
• Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Who the study is looking for

Age in the registry: 0 years to 18 years · Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (40)

Sites in registry order. Pick your city on the disease page to sort them by distance.