Gaucher Disease Type 1Phase 2LEAPNCT02843035
Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
A Phase 2 study testing venglustat (GZ402671) and imiglucerase in people with Gaucher Disease Type 1 and Gaucher Disease Type 3, run by Genzyme, a Sanofi Company at 7 sites in 4 countries.
Trial summary
Part 1: Biomarker evaluation/screening phase Primary Objectives: Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1) participants Screen adult GD3 participants who qualify for treatment with venglustat in Parts 2… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Gaucher Disease Type 1, Gaucher Disease Type 3
- What is being tested?
- venglustat (GZ402671) 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
- 12 participants
- Where
- 7 sitesin 4 countries
- Study dates
- 4 Jan 2017to 30 Oct 2026
- Phase
- Phase 2
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- GD3 and GD1 participants must meet the following criteria to be eligible for this study:
- GD1 participant is ≥18 and ≤40 years of age.
- GD3 participant is ≥18 years of age.
- Participant must provide written informed consent prior to any study-related procedures being performed.
- Participant has a clinical diagnosis of Gaucher disease Type 1 (GD1) or Gaucher disease Type 3 (GD3) and documented deficiency of acid beta-glucosidase activity confirming this diagnosis.
- 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 and is within the therapeutic goals defined below, and is deemed clinically stable for at least 1 year by the Investigator.
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- Participant has reached Gaucher disease therapeutic goals defined as all of the following to be eligible for this study:
- 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), or total splenectomy (provided the splenectomy occurred >3 years prior to randomization).
- 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.
- Participant has maintained GD therapeutic goals defined as all of the following to be eligible for entering Part 4 of this study:
- 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), or total splenectomy
- 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 entering Part 4
- Participant, if female and of childbearing potential, must have a negative pregnancy test [urine beta-human chorionic gonadotropin (β-hCG)] at baseline.
- If participant has a history of seizures, except for myoclonic seizures, they are well controlled under appropriate medication not identified as a strong or moderate inducer or inhibitor of cytochrome P450 (CYP) 3A.
- Participant is willing to abstain from consumption of grapefruit, grapefruit juice, or grapefruit containing products for 72 hours prior to administration of the first dose of venglustat and for the duration of the treatment period.
- Oculomotor apraxia characterized by a horizontal saccade abnormality.
- Female participants of childbearing potential and male participants must be willing to practice true abstinence in line with their preferred and usual lifestyle, or use 2 acceptable effective methods of contraception for the duration of the study and for at least 6 weeks for females and 90 days for males following their last dose of venglustat.
Who cannot join
- Participants are excluded from the study if any of the following criteria apply:
- Substrate reduction therapy or chaperone therapy for GD within 6 months prior to enrollment.
- Participant has had a partial or total splenectomy within 3 years prior to randomization.
- 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.
- 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.
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- Participant has renal insufficiency, as defined by an estimated glomerular filtration rate <30 mL/min/1.73m2 at the screening visit.
- Participant has received an investigational product within 30 days prior to enrollment.
- Participant has a history of cancer, with the exception of basal cell carcinoma.
- Participant has myoclonic seizures.
- Participant is pregnant or lactating.
- Participant has, according to World Health Organization (WHO) Grading, a cortical cataract > one-quarter of the lens circumference (Grade cortical cataract-2) or a posterior subcapsular cataract >2 mm (Grade posterior subcapsular cataract-2). Participants with nuclear cataracts will not be excluded.
- Participant requires use of invasive ventilatory support.
- Participant requires use of noninvasive ventilator support while awake for longer than 12 hours daily.
- Participant is unable to receive treatment with Cerezyme due to a known hypersensitivity or is unwilling to receive Cerezyme treatment to ensure maintenance of Gaucher treatment goals.
- Participant is currently receiving potentially cataractogenic medications (corticosteroids, psoralens used in dermatology with ultraviolet light therapy [PUVA], typical antipsychotics, and glaucoma medications) or any medication that may worsen the vision of a participant with cataract (eg, alphaadrenergic glaucoma medications).
- Participant has received strong or moderate inducers or inhibitors of CYP3A within 15 days or 5 half-lives from screening, whichever is longer, prior to enrolment in Part 2. This also includes the consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting venglustat administration in Parts 2 and 3.
- Participant is scheduled for in-patient hospitalization including elective surgery, during the study.
- Participant has had a major organ transplant (e.g., bone marrow or liver).
- Participant, in the opinion of the investigator, is unable to adhere to the requirements of the study or unable to undergo study assessments (e.g., contraindications for magnetic resonance imaging).
Trial locations and contacts
7 sites in 4 countries.
7 sites in 4 countries
United States3 sites
Baylor Institute of Metabolic Diseases Site Number : 840001
Dallas, Texas, 75226
Lysosomal and Rare Disorders Research and Treatment Center, Inc Site Number : 840003
Fairfax, Virginia, 22030
Yale University School of Medicine Site Number : 840002
New Haven, Connecticut, 06520
United Kingdom2 sites
Investigational Site Number : 826003
Cambridge, Cambridgeshire, CB2 OQQ
Investigational Site Number : 826002
Salford, Manchester, M6 8HD
About this study
Official title: A 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
Part 1: Biomarker evaluation/screening phase
Primary Objectives:
Read more
- Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1) participants
- Screen adult GD3 participants who qualify for treatment with venglustat in Parts 2, Part 3, and Part 4 Parts 2 and 3: Combination treatment phases
Primary objectives:
- Evaluate short-term (Part 2) and long-term (Part 3) safety and tolerability of venglustat in combination with Cerezyme in adult GD3 participants
- Evaluate the change in CSF central nervous system (CNS) biomarkers (glucosylceramide [GL-1] and lyso-glucosylceramide [lyso-GL-1]) from adult GD3 participants receiving venglustat in combination with Cerezyme (Part 2 only) Part 4: Extended treatment phase with monotherapy
Primary objectives:
- Evaluate safety and tolerability of venglustat monotherapy in adult GD3 participants who have remained systemically stable on venglustat in combination with Cerezyme Parts 2 and 3: Combination treatment phases
Secondary Objectives:
- Evaluate the pharmacokinetics (PK) of venglustat in adult GD3 participants
- Evaluate the efficacy of venglustat in combination with Cerezyme in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count
- Evaluate the efficacy of venglustat in combination with Cerezyme on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA)
- Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants Part 4: Extended treatment phase with monotherapy
Secondary objectives:
- Evaluate the efficacy of venglustat in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count
- Evaluate the efficacy of venglustat on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA)
- Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants
Read the detailed description
The total duration for GD1 participants is 45 days (Part 1), while for GD3 participants the total duration is up to approximately 10 years
- Conditions
- Gaucher Disease Type 1, Gaucher Disease Type 3
- Being tested
- venglustat (GZ402671), 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.
venglustat (GZ402671)Drug
Pharmaceutical form: capsule or tablet
Route of administration: oral
imigluceraseDrug
Also called Cerezyme
Pharmaceutical form: sterile lyophilized product
Route of administration: intravenous
| Study group | Role | What they receive |
|---|---|---|
| Open label (OL) venglustat | Experimental | Administered once a day orally for up to approximately 10 years. Participants will continue their usual dose of Cerezyme during Part 1, Part 2 and Part 3. There is no administration of Cerezyme in Part 4 unless administrated as rescue treatment. Receives: Drug: venglustat (GZ402671); Drug: imiglucerase |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with Treatment Emergent Adverse Events (TEAEs)
Measured: From screening up to end of study, up to approximately 10 years
Assessment of pharmacodynamic (PD) parameter: Lyso-glucosylceramide (lyso-GL1) and glucosylceramide (GL-1) in cerebrospinal fluid (CSF)
Measured: From screening through Week 52
Secondary outcomes (16)
Assessment of pharmacodynamic (PD) parameter: Lyso-glucosylceramide (lyso-GL1) and glucosylceramide (GL-1) in plasma
Change from baseline in plasma lyso-GL1 and GL1
Measured: From screening up to end of study, up to approximately 10 years
Assessment of plasma pharmacokinetic parameter: Cmax (Part 2)
Plasma maximum concentration (Cmax)
Measured: Day 1
Assessment of plasma pharmacokinetic parameter: Tmax (Part 2)
Plasma time at Cmax (Tmax)
Measured: Day 1
Assessment of plasma pharmacokinetic parameter: AUC0-24h (Part 2)
Plasma area under the curve (AUC0-24h)
Measured: Day 1
Assessment of plasma pharmacokinetic parameter: Ctrough
Plasma trough concentration (Ctrough)
Measured: Weeks 12 and 39 (Part 2), and on Weeks 78, 104, and 156 (for Part 3)
Assessment of CSF pharmacokinetic parameter: Cmax
CSF maximum concentration (Cmax)
Measured: Week 4, Week 26, and Week 52
Assessment of spleen volume
Percent change from baseline in spleen volume assessed by Magnetic Resonance Imaging (MRI)
Measured: From screening up to end of study, up to approximately 10 years
Assessment of spleen volume (Part 4)
Percent change from Part 4 baseline in spleen volume assessed by MRI
Measured: From Week 260 up to end of study, up to approximately 10 years
Assessment of liver volume
Percent change from baseline in liver volume assessed by MRI
Measured: From screening up to end of study, up to approximately 10 years
Assessment of liver volume (Part 4)
Percent change from Part 4 baseline in liver volume assessed by MRI
Measured: From Week 260 up to end of study, up to approximately 10 years
Assessment of hemoglobin level
Change from baseline in hemoglobin level
Measured: From screening up to end of study, up to approximately 10 years
Assessment of hemoglobin level (Part 4)
Change from Part 4 baseline in hemoglobin level
Measured: From Week 260 up to end of study, up to approximately 10 years
Assessment of platelet level
Percent change from baseline in platelet count
Measured: From screening up to end of study, up to approximately 10 years
Assessment of platelet level (Part 4)
Percent change from Part 4 baseline in platelet count
Measured: From Week 260 up to end of study, up to approximately 10 years
Assessment of Ataxia
Ataxia is assessed by using the Scale for the Assessment and Rating of Ataxia (SARA), which consists of 8 items that are related to gait, stance, sitting, speech disturbance, finger-chase test, nose-finger test, fast alternating hand movements and heel-shin slide test. A modified scoring algorithm is used to determine the SARA modified total score from 0 (no ataxia) to 32 (very severe ataxia).
Change from baseline in SARA modified total score.
Measured: From screening up to end of study, up to approximately 10 years
Assessment of Ataxia (Part 4)
Ataxia is assessed by using the Scale for the Assessment and Rating of Ataxia (SARA), which consists of 8 items that are related to gait, stance, sitting, speech disturbance, finger-chase test, nose-finger test, fast alternating hand movements and heel-shin slide test. A modified scoring algorithm is used to determine the SARA modified total score from 0 (no ataxia) to 32 (very severe ataxia).
Change from Part 4 baseline in SARA modified total score.
Measured: From Week 260 up to end of study, up to approximately 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2016 (estimated)
- Study start4 Jan 2017
- Primary completion30 Oct 2026 (estimated)
- Study completion30 Oct 2026 (estimated)
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 Disease Type 1Studies of the same condition, open and under way.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Sciences & Operations, Study director, Sanofi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02843035
- Sponsor's protocol ID
- PDY13949
- Other IDs
- U1111-1156-4278, 2023-508646-18, 2014-002550-39, 2014, 2023
- Acronym
- LEAP
- Status last verified
- Jun 2026
- First submitted
- 20 Jul 2016
- Last updated
- 10 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
Publications
Schiffmann R, Mengel E, Wallace M, Rochmann C, Turnbull J, Krupnick R, Gwaltney C, Pulikottil-Jacob R, Batsu I, Zheng R, Hamed A. Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP). Adv Ther. 2024 Jul;41(7):2907-2923. doi: 10.1007/s12325-024-02881-2. Epub 2024 May 27.
PubMed 38802634
Study at a glance
From the registry record, last updated by the sponsor on 10 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
- ClinicalTrials.gov ID
- NCT02843035
- Acronym / sponsor ID
- LEAP / PDY13949
- Conditions
- Gaucher Disease Type 1, Gaucher Disease Type 3
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- 4 Jan 2017 (actual)
- Primary completion
- 30 Oct 2026 (estimated)
- Study completion
- 30 Oct 2026 (estimated)
- First posted
- 25 Jul 2016 (estimated)
- 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.
Part 1: Biomarker evaluation/screening phase
Primary Objectives:
- Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1) participants
- Screen adult GD3 participants who qualify for treatment with venglustat in Parts 2, Part 3, and Part 4 Parts 2 and 3: Combination treatment phases
Primary objectives:
- Evaluate short-term (Part 2) and long-term (Part 3) safety and tolerability of venglustat in combination with Cerezyme in adult GD3 participants
- Evaluate the change in CSF central nervous system (CNS) biomarkers (glucosylceramide [GL-1] and lyso-glucosylceramide [lyso-GL-1]) from adult GD3 participants receiving venglustat in combination with Cerezyme (Part 2 only) Part 4: Extended treatment phase with monotherapy
Primary objectives:
- Evaluate safety and tolerability of venglustat monotherapy in adult GD3 participants who have remained systemically stable on venglustat in combination with Cerezyme Parts 2 and 3: Combination treatment phases
Secondary Objectives:
- Evaluate the pharmacokinetics (PK) of venglustat in adult GD3 participants
- Evaluate the efficacy of venglustat in combination with Cerezyme in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count
- Evaluate the efficacy of venglustat in combination with Cerezyme on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA)
- Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants Part 4: Extended treatment phase with monotherapy
Secondary objectives:
- Evaluate the efficacy of venglustat in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count
- Evaluate the efficacy of venglustat on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA)
- Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants
Detailed description
The total duration for GD1 participants is 45 days (Part 1), while for GD3 participants the total duration is up to approximately 10 years
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open label (OL) venglustat | Experimental | Drug: venglustat (GZ402671), Drug: imigluceraseAdministered once a day orally for up to approximately 10 years. Participants will continue their usual dose of Cerezyme during Part 1, Part 2 and Part 3. There is no administration of Cerezyme in Part 4 unless administrated as rescue treatment. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (23 listed)
- GD1 participant is ≥18 and ≤40 years of age.
- GD3 participant is ≥18 years of age.
- Participant must provide written informed consent prior to any study-related procedures being performed.
- Participant has a clinical diagnosis of Gaucher disease Type 1 (GD1) or Gaucher disease Type 3 (GD3) and documented deficiency of acid beta-glucosidase activity confirming this diagnosis.
- 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 and is within the therapeutic goals defined below, and is deemed clinically stable for at least 1 year by the Investigator.
Key exclusion criteria (20 listed)
- Substrate reduction therapy or chaperone therapy for GD within 6 months prior to enrollment.
- Participant has had a partial or total splenectomy within 3 years prior to randomization.
- 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.
- 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.
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 |
|---|---|---|
| venglustat (GZ402671)Pharmaceutical form: capsule or tablet Route of administration: oral | Drug | Open label (OL) venglustat |
| imigluceraseAlso: CerezymePharmaceutical form: sterile lyophilized product Route of administration: intravenous | Drug | Open label (OL) venglustat |
Primary outcome
Number of participants with Treatment Emergent Adverse Events (TEAEs)
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of pharmacodynamic (PD) parameter: Lyso-glucosylceramide (lyso-GL1) and glucosylceramide (GL-1) in cerebrospinal fluid (CSF)
Time frame: From screening through Week 52
16 secondary outcomes
Assessment of pharmacodynamic (PD) parameter: Lyso-glucosylceramide (lyso-GL1) and glucosylceramide (GL-1) in plasma
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of plasma pharmacokinetic parameter: Cmax (Part 2)
Time frame: Day 1
Assessment of plasma pharmacokinetic parameter: Tmax (Part 2)
Time frame: Day 1
Assessment of plasma pharmacokinetic parameter: AUC0-24h (Part 2)
Time frame: Day 1
Assessment of plasma pharmacokinetic parameter: Ctrough
Time frame: Weeks 12 and 39 (Part 2), and on Weeks 78, 104, and 156 (for Part 3)
Assessment of CSF pharmacokinetic parameter: Cmax
Time frame: Week 4, Week 26, and Week 52
Assessment of spleen volume
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of spleen volume (Part 4)
Time frame: From Week 260 up to end of study, up to approximately 10 years
Assessment of liver volume
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of liver volume (Part 4)
Time frame: From Week 260 up to end of study, up to approximately 10 years
Assessment of hemoglobin level
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of hemoglobin level (Part 4)
Time frame: From Week 260 up to end of study, up to approximately 10 years
Assessment of platelet level
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of platelet level (Part 4)
Time frame: From Week 260 up to end of study, up to approximately 10 years
Assessment of Ataxia
Time frame: From screening up to end of study, up to approximately 10 years
Assessment of Ataxia (Part 4)
Time frame: From Week 260 up to end of study, up to approximately 10 years
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 10 Jul 2026.
- Derived from this study: PubMed 38802634Schiffmann R, Mengel E, Wallace M, Rochmann C, Turnbull J, Krupnick R, Gwaltney C, Pulikottil-Jacob R, Batsu I, Zheng R, Hamed A. Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP). Adv Ther. 2024 Jul;41(7):2907-2923. doi: 10.1007/s12325-024-02881-2. Epub 2024 May 27.
- PDY13949 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
7 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing venglustat (GZ402671) and imiglucerase in people with Gaucher Disease Type 1 and Gaucher Disease Type 3, run by Genzyme, a Sanofi Company at 7 sites in 4 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 23 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 10 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 7 sites in United States, United Kingdom, Germany, Japan. 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 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
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?
Number of participants with Treatment Emergent Adverse Events (TEAEs) (time frame: From screening up to end of study, up to approximately 10 years). 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?
On the ClinicalTrials.gov record for NCT02843035, 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 10 Jul 2026.