Gaucher DiseaseSMSNCT04430881
A National Study in Patients With Unexplained Splenomegaly
An observational study of Gaucher Disease and Splenomegaly, run by Sanofi at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 15 years and older
- Conditions the study is for
- Gaucher Disease, Splenomegaly
- How many people
- 506 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2015to 27 Apr 2021
- 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 15 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants 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
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: The SMS Study, a National Study on Prevalence of Unexplained Splenomegaly Etiologies
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
Read the detailed description
Study duration per participant is between 1 and 12 months
- Conditions
- Gaucher Disease, Splenomegaly
- Medical subject headings
- Gaucher Disease, Splenomegaly
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of patients diagnosed with Gaucher disease in the included population of patients with unexplained splenomegaly
The diagnosis of Gaucher Disease is based on a value of beta-glucosidase enzyme activity
Measured: between 1 and 12 months
Secondary outcomes (2)
Percentage of patients with other than Gaucher disease-etiologies in the included population
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
Measured: between 1 and 12 months
Number of participants by type of exams and tests conducted for diagnosis purpose
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
Measured: between 1 and 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2020
- Study startSep 2015
- Primary completion27 Apr 2021
- Study completion27 Apr 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Gaucher DiseaseStudies 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
- Prospective
- Enrolment
- 506 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
- NCT04430881
- Sponsor's protocol ID
- DIREGL07298
- Acronym
- SMS
- Status last verified
- Apr 2022
- First submitted
- 11 Jun 2020
- Last updated
- 25 Apr 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- 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
Publications
Denis G, Terriou L, Sene T, Costello R, Michaud M, Lagadec A, Bauduer F, Sanhes L, Rose C, Urbanski G, Berger MG. SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world. Orphanet J Rare Dis. 2025 Jun 6;20(1):285. doi: 10.1186/s13023-025-03768-3.
PubMed 40481534
Study at a glance
From the registry record, last updated by the sponsor on 25 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The SMS Study, a National Study on Prevalence of Unexplained Splenomegaly Etiologies
- ClinicalTrials.gov ID
- NCT04430881
- Acronym / sponsor ID
- SMS / DIREGL07298
- Conditions
- Gaucher Disease, Splenomegaly
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 506 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- Sep 2015 (actual)
- Primary completion
- 27 Apr 2021 (actual)
- Study completion
- 27 Apr 2021 (actual)
- First posted
- 12 Jun 2020 (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 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants 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
Key inclusion criteria (4 listed)
- Participants referred for the first time for splenomegaly exploration defined as :
- Participants with splenomegaly (as defined above) of unknown origin
Key exclusion criteria (6 listed)
- Participants with obvious diagnostics based on clinical exam, patient's interview and the previous initial routine biological tests :
- The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
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 Gaucher disease in the included population of patients with unexplained splenomegaly
Time frame: between 1 and 12 months
The diagnosis of Gaucher Disease is based on a value of beta-glucosidase enzyme activity
2 secondary outcomes
Percentage of patients with other than Gaucher disease-etiologies in the included population
Time frame: between 1 and 12 months
Number of participants by type of exams and tests conducted for diagnosis purpose
Time frame: between 1 and 12 months
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 25 Apr 2022.
- Derived from this study: PubMed 40481534Denis G, Terriou L, Sene T, Costello R, Michaud M, Lagadec A, Bauduer F, Sanhes L, Rose C, Urbanski G, Berger MG. SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world. Orphanet J Rare Dis. 2025 Jun 6;20(1):285. doi: 10.1186/s13023-025-03768-3.
- 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
1 site 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 and Splenomegaly, run by Sanofi at 1 site 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 4 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 25 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Gaucher disease in the included population of patients with unexplained splenomegaly (time frame: between 1 and 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04430881, which also lists 1 linked publication.
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 25 Apr 2022.