Gaucher Disease, SplenomegalyOPPUSNCT04845958
A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen
An observational study of Gaucher Disease, Splenomegaly and Acid SphingoMyelinase Deficiency, run by Sanofi at 40 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 18 years
- Conditions the study is for
- Gaucher Disease, Splenomegaly, Acid SphingoMyelinase Deficiency
- How many people
- 60 participants
- Where
- 40 sitesFrance
- Study dates
- 30 Jun 2021to 25 Nov 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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
Who may be able to join
- 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
Who cannot join
- 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:
- hemolytic anemia
- hematological malignancy
- portal hypertension
- 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.
Trial locations and contacts
40 sites in 1 country.
40 sites in 1 country
France40 sites
Investigational Site Number 2500036
Amiens, 80054
Investigational Site Number 2500014
Angers, 49933
Investigational Site Number 2500034
Argenteuil, 95107
Investigational Site Number 2500039
Bayonne, 64100
Investigational Site Number 2500015
Besançon, 25030
Investigational Site Number 2500003
Bordeaux, 33000
Investigational Site Number 2500038
Brest, 29609
Investigational Site Number 2500026
Caen, 14033
Investigational Site Number 2500018
Chambéry, 73000
Investigational Site Number 2500009
Clermont-Ferrand, 63000
Investigational Site Number 2500008
Colombes, 92700
Investigational Site Number 2500028
Créteil, 94000
Investigational Site Number 2500006
Dijon, 21079
Investigational Site Number 2500010
Gleizé, 69400
Investigational Site Number 2500031
Jossigny, 77600
Investigational Site Number 2500040
La Rochelle, 17000
Investigational Site Number 2500007
La Tronche, 38700
Investigational Site Number 2500030
Limoges, 87042
Investigational Site Number 2500001
Lyon, 69008
Investigational Site Number 2500032
Mantes-la-Jolie, 78200
Investigational Site Number 2500005
Marseille, 13005
Investigational Site Number 2500027
Meaux, 77100
Investigational Site Number 2500002
Montpellier, 34090
Investigational Site Number 2500021
Nantes, 44000
Investigational Site Number 2500019
Nice, 06200
Investigational Site Number 2500022
Nîmes, 30029
Investigational Site Number 2500016
Paris, 75012
Investigational Site Number 2500013
Perpignan, 66000
Investigational Site Number 2500035
Poissy, 78300
Investigational Site Number 2500011
Poitiers, 86000
Investigational Site Number 2500029
Reims, 51100
Investigational Site Number 2500023
Rennes, 35203
Investigational Site Number 2500037
Roubaix, 59056
Investigational Site Number 2500024
Rouen, 76031
Investigational Site Number 2500017
Saint-Priest-en-Jarez, 42270
Investigational Site Number 2500004
Strasbourg, 67200
Investigational Site Number 2500033
Toulouse
Investigational Site Number 2500020
Tours
Investigational Site Number 2500025
Valenciennes, 59300
Investigational Site Number 2500012
Vandœuvre-lès-Nancy, 54500
About this study
Official title: An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly
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).
Read more
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
Read the detailed description
The planned duration of this study is 39 months, which includes 36 months of patient recruitment.
- Medical subject headings
- Gaucher Disease, Splenomegaly, Niemann-Pick Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pediatric Patients with Unexplained Enlarged Spleen | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of patients diagnosed with GD among enrolled patients
Diagnosis of GD based on deficient β-glucocerebrosidase activity in peripheral blood leukocytes or other nucleated cells, or genetic analysis.
Measured: Up to 3 months after inclusion
Secondary outcomes (3)
Rate of each identified disease category at the end of the study among enrolled patients
Measured: Up to 3 months after inclusion
Rate of patients with no final diagnosis at the end of the study among enrolled patients
Measured: Up to 3 months after inclusion
Number of patients based on specific char. (clinical, lab, genetics)
Detailed characteristics of all patients included in the study (clinical, lab, genetics) will be evaluated
Measured: Up to 3 months after inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2021
- Study start30 Jun 2021
- Primary completion25 Nov 2024
- Study completion25 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher Disease, SplenomegalyStudies of the same condition, open and under way.
- More trials run by SanofiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanofi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04845958
- Sponsor's protocol ID
- OBS16092
- Other IDs
- U1111-1267-2545
- Acronym
- OPPUS
- Status last verified
- Sep 2025
- First submitted
- 12 Apr 2021
- Last updated
- 23 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org
Study at a glance
From the registry record, last updated by the sponsor on 23 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly
- ClinicalTrials.gov ID
- NCT04845958
- Acronym / sponsor ID
- OPPUS / OBS16092
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 30 Jun 2021 (actual)
- Primary completion
- 25 Nov 2024 (actual)
- Study completion
- 25 Nov 2024 (actual)
- First posted
- 15 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pediatric Patients with Unexplained Enlarged Spleen | – | – |
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (6 listed)
- 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:
- hemolytic anemia
- hematological malignancy
- portal hypertension
- infectious disease associated with SMG (Cytomegalovirus, Epstein Barr virus, leishmaniasis or other obvious infectious cause revealed by the medical history)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Percentage of patients diagnosed with GD among enrolled patients
Time frame: 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.
3 secondary outcomes
Rate of each identified disease category at the end of the study among enrolled patients
Time frame: Up to 3 months after inclusion
Rate of patients with no final diagnosis at the end of the study among enrolled patients
Time frame: Up to 3 months after inclusion
Number of patients based on specific char. (clinical, lab, genetics)
Time frame: Up to 3 months after inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Sep 2025.
- Individual participant dataSharing planned: Yes. Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Clinical Sciences & Operations study director
Sanofi
40 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, Splenomegaly and Acid SphingoMyelinase Deficiency, run by Sanofi at 40 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 40 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of patients diagnosed with GD among enrolled patients (time frame: Up to 3 months after inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Sep 2025.