A National Study in Patients With Unexplained Splenomegaly

Completed

• Conditions: Gaucher Disease; Splenomegaly

• Registration Number: NCT04430881
• Lead Sponsor: Sanofi

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

Study Timeline

• Study Start: 2015-09
• Study First Submitted: 2020-06-11
• Study First Submitted QC: 2020-06-11
• Study First Posted: 2020-06-12
• Primary Completion: 2021-04-27
• Study Completion: 2021-04-27
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-21
• Last Update Posted: 2022-04-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 506

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (1)

Investigational site France; 🇫🇷 France, France