Gaucher's Disease Type IIIPhase 3LEAP2MONONCT05222906
Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3
A Phase 3 study testing Venglustat and imiglucerase in people with Gaucher's Disease Type III, run by Sanofi at 22 sites in 11 countries.
Trial summary
This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or stabilization of the neurological manifestations and maintenance of systemic disease… Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Gaucher's Disease Type III
- What is being tested?
- Venglustat and imiglucerase
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 43 participants
- Where
- 22 sitesin 11 countries
- Study dates
- 18 Apr 2022to 30 Oct 2026
- Phase
- Phase 3
- Are there results?
- Not yet: the study is under way
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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- The participant has received ERT (Cerezyme or other ERT; as deemed appropriate by local regulations) for at least 3 years prior to enrollment, on a stable dose for at least 6 months, is deemed clinically stable for at least 1 year by the Investigator and is within the therapeutic goals as all of the following:
- Hemoglobin level of ≥11.0 g/dL for females and ≥12.0 g/dL for males
- Platelet count ≥100 000/mm3
- Spleen volume <10 multiples of normal (MN)
- Liver volume <1.5 MN
- No bone crisis and free of symptomatic bone disease such as bone pain attributable to osteonecrosis and/or pathological fractures within 3 months prior to screening
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- Adult participant is ≥18 years of age
- Pediatric participant is ≥12 years <18 years of age
- The participant has a clinical diagnosis of GD3 and a documented deficiency of acid beta-glucosidase activity confirming this diagnosis.
- The participant has a modified SARA score of 1 or above.
- The presence of gaze palsy, predominantly horizontal, with slow or absent saccades.
- If the participant has a history of seizures, they are well controlled under appropriate medication not identified as a strong or moderate inducer or inhibitor of CYP3A.
- Participants ≥ 30 kg of weight
- Contraception for sexually active male or female participants; not pregnant or breastfeeding; no sperm donating for male participant
- Signed written informed assent/consent
Who cannot join
- The participant is blood transfusion-dependent.
- Prior esophageal varices or liver infarction or current liver enzymes (alanine aminotransferase [ALT]/ aspartate aminotransferase [AST]) or total bilirubin >2 times the upper limit of normal, unless the participant has a diagnosis of Gilbert Syndrome.
- The participant has any clinically significant disease, other than GD, including cardiovascular (congenital cardiac defect, coronary artery disease, valve disease or left sided heart failure; clinically significant arrhythmias or conduction defect), hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic (eg, hypokalemia, hypomagnesemia) or psychiatric disease, other medical conditions, or serious intercurrent illnesses that may preclude participation in the opinion of the Investigator.
- The participant has renal insufficiency, as defined by an estimated glomerular filtration rate <30 mL/min/1.73m2 at the screening visit.
- The participant has a history of cancer, except for basal cell carcinoma.
- The participant has progressive myoclonic epilepsy.
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- The participant is pregnant (has a positive serum beta-human chronic gonadotropin [β-hCG]) or lactating.
- The participant requires use of invasive ventilatory support.
- The participant requires use of noninvasive ventilator support while awake for longer than 12 hours daily.
- The participant is scheduled for in-patient hospitalization including elective surgery, during the study.
- The participant has had a major organ transplant (eg, bone marrow or liver).
- A history of drug and/or alcohol abuse within the past year prior to the screening visit.
- Chaperone therapy within 6 months, substrate reduction therapy other than venglustat within 6 months or venglustat substrate reduction therapy prior to enrollment.
- Exposure to any investigational drug within the last 30 days or 5 half-lives from screening, whichever is longer.
- The participant has received strong or moderate inducers or inhibitors of CYP3A within 14 days or 5 half-lives from screening, whichever is longer, prior to screening. This also includes the consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting venglustat. The participant is unwilling to abstain from consumption of grapefruit, grapefruit juice, or grapefruit containing products for the duration of the treatment period.
- The participant, in the opinion of the investigator, is unable to adhere to the requirements of the study or unable to undergo study assessments (eg, contraindication for MRI).
- Type of participant and disease characteristic: the participant has had a total splenectomy prior to enrollment. The patient had a partial splenectomy within 3 years prior to randomization.
- Participant not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures
- Sensitivity to any of the study interventions, or components thereof, or drug or other allergy that, in the opinion of the Investigator, contraindicates participation in the study
- The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.
Trial locations and contacts
22 sites in 11 countries.
22 sites in 11 countries
United States4 sites
Texas Oncology - Medical City Dallas Site Number : 8400008
Dallas, Texas, 75230
Lysosomal & Rare Disorders Research & Treatment Center, Inc - Investigational Site Number: 8400001
Fairfax, Virginia, 22030
University of Iowa - Investigational Site Number: 8400002
Iowa City, Iowa, 52242
Yale University School of Medicine - Investigational Site Number: 8400003
New Haven, Connecticut, 06511
China4 sites
Peking Union Medical College Hospital - Investigational Site Number: 1560001
Beijing, 100005
The First Affiliated Hospital - Investigational Site Number: 1560002
Guangzhou, 510080
Xinhua Hospital - Investigational Site Number: 1560004
Shanghai, 200092
National Taiwan University Hospital-Investigational Site Number: 1580001
Taipei, Taiwan, 10041
Turkey (Türkiye)3 sites
Cukurova University Medical School Hospital-Investigational Site Number : 7920001
Adana, 01790
Gazi University Medical Hospital-Investigational Site Number : 7920002
Ankara, 06500
Istanbul University Medical Faculty Hospital-Investigational Site Number : 7920004
Istanbul, 34093
France2 sites
47-87, boulevard de l'hôpital - Investigational Site Number: 2500003
Paris, 75013
Hopital Necker - Investigational Site Number: 2500001
Paris, 75015
Italy2 sites
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Investigational Site Number : 3800003
Milan, Lombardy, 20122
Azienda Ospedaliera Universitaria (AOU) "Federico II" - Investigational Site Number: 3800002
Naples, 80131
Japan2 sites
Odawara Municipal Hospital-Investigational Site Number : 3920002
Odawara, Kanagawa, 250-8558
Tohoku University School of Medicine - Investigational Site Number: 3920001
Sendai, 980-8574
Argentina1 site
Hospital de Ninos - Investigational Site Number: 320001
Buenos Aires, 1426
Canada1 site
Children's Hospital Research Institute of Manitoba - Investigational Site Number: 1240001
Winnipeg, Manitoba, R3E 3P4
Germany1 site
SphinCS GmbH - Investigational Site Number: 2760001
Hochheim am Main, 65239
Hungary1 site
Debreceni Egyetem, Klinikai Központ, Reumatológiai Klinika - Investigational Site Number: 3480001
Debrecen, H-4032
United Kingdom1 site
Investigational Site Number : 8260001
London, NW3-2PF
About this study
Official title: A Phase 3, Multicenter, Multinational, Randomized, Double-blind, Double-dummy, Active-comparator Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ERT)
This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or stabilization of the neurological manifestations and maintenance of systemic disease stability in participants aged ≥12 and <18 years and adult patients with Gaucher disease Type 3 (GD3) who have been treated with Enzyme Replacement Therapy (ERT) for at least 3 years.
Read the detailed description
Screening period: 45 days
Double blind, double-dummy, primary analysis treatment period: 52 weeks
Open label extended treatment period: minimum of 52 weeks due to a common study end of treatment date
Follow up phone call: 30-37 days after end of treatment
- Conditions
- Gaucher's Disease Type III
- Being tested
- Venglustat, imiglucerase
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
VenglustatDrug
tablet; oral
imigluceraseDrug
Also called Cerezyme®
sterile lyophilized product; intravenous
| Study group | Role | What they receive |
|---|---|---|
| Venglustat | Experimental | Venglustat Receives: Drug: Venglustat |
| Cerezyme | Active comparator | Cerezyme Receives: Drug: imiglucerase |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Scale for Assessment and Rating of Ataxia (SARA) modified total score
Measured: From baseline to Week 52
Change in Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) total scale index score
Measured: From baseline to Week 52
Secondary outcomes (9)
Percent change in spleen volume
Measured: From baseline to Week 52
Percent change in liver volume
Measured: From baseline to Week 52
Change in hemoglobin level
Measured: From baseline to Week 52
Percent change in platelet count
Measured: From baseline to Week 52
Percent change in CSF GL-1 and lyso-GL-1 levels
Measured: From baseline to Week 52
Percent change in plasma GL-1 and lyso-GL-1 levels
Measured: From baseline to Week 52
Number of patients with treatment emergent adverse events (TEAEs)/ serious adverse events (SAEs)/ adverse events of special interest (AESIs)
Measured: From baseline to max of 4.5 years
Change in score of Beck Depression Inventory II (BDI-II) during the treatment-emergent period (for participants 13 years of age and above at baseline)
Measured: From baseline to Week 52
Change in Patient Health Questionnaire 9 (PHQ-9) during the treatment-emergent period (for participants 12 years of age at baseline)
Measured: From baseline to Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2022
- Study start18 Apr 2022
- Primary completion2 Oct 2025
- Study completion30 Oct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher's Disease Type IIIStudies 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
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- Double Dummy
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 43 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
- NCT05222906
- Sponsor's protocol ID
- EFC17215
- Other IDs
- U1111-1265-6930, 2024-514381-39, 2021-005402-10
- Acronym
- LEAP2MONO
- Status last verified
- Jul 2026
- First submitted
- 20 Jan 2022
- Last updated
- 13 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- 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
- Expanded access
- Available
Study at a glance
From the registry record, last updated by the sponsor on 13 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 3, Multicenter, Multinational, Randomized, Double-blind, Double-dummy, Active-comparator Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ERT)
- ClinicalTrials.gov ID
- NCT05222906
- Acronym / sponsor ID
- LEAP2MONO / EFC17215
- Conditions
- Gaucher's Disease Type III
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 43 participants (actual)
- Lead sponsor
- SanofiIndustry (pharma, biotech, devices)
- Study start
- 18 Apr 2022 (actual)
- Primary completion
- 2 Oct 2025 (actual)
- Study completion
- 30 Oct 2026 (estimated)
- First posted
- 3 Feb 2022 (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.
This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or stabilization of the neurological manifestations and maintenance of systemic disease stability in participants aged ≥12 and <18 years and adult patients with Gaucher disease Type 3 (GD3) who have been treated with Enzyme Replacement Therapy (ERT) for at least 3 years.
Detailed description
Screening period: 45 days
Double blind, double-dummy, primary analysis treatment period: 52 weeks
Open label extended treatment period: minimum of 52 weeks due to a common study end of treatment date
Follow up phone call: 30-37 days after end of treatment
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
- Model description
- Double Dummy
| Arm | Type | Receives |
|---|---|---|
| Venglustat | Experimental | Drug: VenglustatVenglustat |
| Cerezyme | Active comparator | Drug: imigluceraseCerezyme |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (15 listed)
- The participant has received ERT (Cerezyme or other ERT; as deemed appropriate by local regulations) for at least 3 years prior to enrollment, on a stable dose for at least 6 months, is deemed clinically stable for at least 1 year by the Investigator and is within the therapeutic goals as all of the following:
- Adult participant is ≥18 years of age
- Pediatric participant is ≥12 years <18 years of age
- The participant has a clinical diagnosis of GD3 and a documented deficiency of acid beta-glucosidase activity confirming this diagnosis.
- The participant has a modified SARA score of 1 or above.
Key exclusion criteria (20 listed)
- The participant is blood transfusion-dependent.
- Prior esophageal varices or liver infarction or current liver enzymes (alanine aminotransferase [ALT]/ aspartate aminotransferase [AST]) or total bilirubin >2 times the upper limit of normal, unless the participant has a diagnosis of Gilbert Syndrome.
- The participant has any clinically significant disease, other than GD, including cardiovascular (congenital cardiac defect, coronary artery disease, valve disease or left sided heart failure; clinically significant arrhythmias or conduction defect), hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic (eg, hypokalemia, hypomagnesemia) or psychiatric disease, other medical conditions, or serious intercurrent illnesses that may preclude participation in the opinion of the Investigator.
- The participant has renal insufficiency, as defined by an estimated glomerular filtration rate <30 mL/min/1.73m2 at the screening visit.
- The participant has a history of cancer, except for basal cell carcinoma.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Venglustattablet; oral | Drug | Venglustat |
| imigluceraseAlso: Cerezyme®sterile lyophilized product; intravenous | Drug | Cerezyme |
Primary outcome
Change in Scale for Assessment and Rating of Ataxia (SARA) modified total score
Time frame: From baseline to Week 52
Change in Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) total scale index score
Time frame: From baseline to Week 52
9 secondary outcomes
Percent change in spleen volume
Time frame: From baseline to Week 52
Percent change in liver volume
Time frame: From baseline to Week 52
Change in hemoglobin level
Time frame: From baseline to Week 52
Percent change in platelet count
Time frame: From baseline to Week 52
Percent change in CSF GL-1 and lyso-GL-1 levels
Time frame: From baseline to Week 52
Percent change in plasma GL-1 and lyso-GL-1 levels
Time frame: From baseline to Week 52
Number of patients with treatment emergent adverse events (TEAEs)/ serious adverse events (SAEs)/ adverse events of special interest (AESIs)
Time frame: From baseline to max of 4.5 years
Change in score of Beck Depression Inventory II (BDI-II) during the treatment-emergent period (for participants 13 years of age and above at baseline)
Time frame: From baseline to Week 52
Change in Patient Health Questionnaire 9 (PHQ-9) during the treatment-emergent period (for participants 12 years of age at baseline)
Time frame: From baseline to Week 52
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jul 2026.
- EFC17215 Plain Language Results SummaryLink provided by the sponsor.
- 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
22 sites in 11 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Venglustat and imiglucerase in people with Gaucher's Disease Type III, run by Sanofi at 22 sites in 11 countries.
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 15 inclusion and 20 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: under way, not looking for participants, as of the sponsor's last update on 13 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 22 sites in United States, China, Turkey (Türkiye), France, Italy and 6 more countries. 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.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
Change in Scale for Assessment and Rating of Ataxia (SARA) modified total score (time frame: From baseline to Week 52). The study lists 2 primary outcomes in all. 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 13 Jul 2026.