A Phase 3 interventional study of venglustat GZ402671 and placebo in Tay-Sachs Disease and Sandhoff Disease, sponsored by Genzyme, a Sanofi Company. Terminated at 23 sites in 13 countries. Open to participants aged 2 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-01-28.
Sponsored by Genzyme, a Sanofi Company (part of Sanofi) · Phase 3, Interventional, and Treatment
Primary Objectives:
Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period
Secondary population (participants with juvenile/adolescent late-onset GM2 gangliosidosis, GM1 gangliosidosis, saposin C deficiency, sialidosis type 1 or juvenile/adult galactosialidosis): To assess PD response (plasma and CSF GL-1 biomarker and disease specific biomarkers) of venglustat when administered once daily over a 104-week period
Secondary Objectives:
Primary population:
Secondary population:
The total duration is up to approximately 223 weeks, including a 60-day screening period, a 104-week primary analysis treatment period, a 104-week open-label extension treatment period and a 6-week post-treatment safety observation period.
24 studies on the registry are indexed under Tay-Sachs Disease; 4 are open to participants now.
This study's enrollment of 75 is above the median of 30 across 15 interventional studies indexed under Tay-Sachs Disease.
Browse Tay-Sachs Disease studies →Genzyme, a Sanofi Company is the lead sponsor of 308 studies on the registry; 5 are open to participants now.
Of its 25 completed or terminated interventional studies of FDA-regulated products, 19 (76%) have results posted.
First submitted after Genzyme became part of Sanofi.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion criteria:
The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
CYP3A is a group of enzymes, mainly CYP3A4, in the liver and gut that break down many medicines. Some medicines, supplements and foods (grapefruit, St John’s wort) slow them down or speed them up, which changes how much of a study drug stays in the body.
Studies list them so they can be avoided or switched; bring a list of everything you take, including supplements.
Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.
Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Two enzymes measured in a routine blood test of the liver. Higher levels can mean the liver is under strain or damaged. SGPT and SGOT are older names for ALT and AST.
Criteria usually give a limit as a multiple of the upper limit of normal (ULN), often higher when cancer has spread to the liver.
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
CYP3A (CYP3A4) inhibitors and inducers
CYP3A is a group of enzymes, mainly CYP3A4, in the liver and gut that break down many medicines. Some medicines, supplements and foods (grapefruit, St John’s wort) slow them down or speed them up, which changes how much of a study drug stays in the body.
Studies list them so they can be avoided or switched; bring a list of everything you take, including supplements.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraception
Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.
Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis B tests
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ALT and AST (liver enzymes)
Two enzymes measured in a routine blood test of the liver. Higher levels can mean the liver is under strain or damaged. SGPT and SGOT are older names for ALT and AST.
Criteria usually give a limit as a multiple of the upper limit of normal (ULN), often higher when cancer has spread to the liver.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Bilirubin
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Primary population: participant will receive venglustat dose once daily during the primary analysis period (104 weeks) and the open-label extension period (104 weeks). Secondary population: participant will receive venglustat at various doses once daily during the primary analysis period open-label (104 weeks) and the open-label extension period (104 weeks).
Drug: venglustat GZ402671
Primary population: participants will receive placebo once daily during the primary analysis period (104 weeks) and will receive venglustat dose once daily during the open-label extension period (104 weeks).
Drug: placebo
Pharmaceutical form: tablet Route of administration: oral
Pharmaceutical form: tablet Route of administration: oral
PAP: PP: Percent Change From Baseline in CSF GM2 Biomarker to Week 104
Lumbar puncture was performed for obtaining CSF samples at specified timepoints to assess the presence of GM2 biomarker in PP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) and Week 104
PAP: PP: Annualized Rate of Change From Baseline in the 9-HPT to Week 104
9-HPT is a test of upper extremity (arm and hand) function.Participant is seated at table with small, shallow container holding pegs and block containing 9 empty holes.On start command when stopwatch is started,participant picks up 9 pegs one at a time as quickly as possible, puts them in 9 holes and once they are in holes, removes them again as quickly as possible one at a time,replacing them into shallow container. Both dominant and non-dominant hands are tested twice (2 consecutive trials of dominant hand followed immediately by 2 consecutive trials of non-dominant hand).Total time (ranging up to 300 seconds):averaged, converted to reciprocals which were averaged and back-transformed to obtain global 9-HPT.Higher value on 9-HPT is indicative of higher disability.Mean annualized rate of change in 9-HPT was obtained from exponential transformation of mean slope of log-transformed 9-HPT.Baseline: last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) and Week 104
PAP: SP: Percent Change From Baseline in Plasma and CSF Biomarkers (Glucosylceramide [GL-1] and GM2) to Week 104 in Juvenile/Adolescent Late-onset GM2 Gangliosidosis Participants
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1 and GM2 biomarkers in juvenile/adolescent late-onset GM2 gangliosidosis participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) and Week 104
PAP: SP: Percent Change From Baseline in Plasma and CSF GL-1 and GM1 Biomarkers to Week 104 in GM1 Gangliosidosis Participants
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1 and GM1 biomarkers in GM1 gangliosidosis participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) and Week 104
PAP: SP: Percent Change From Baseline in Plasma and CSF GL-1, GM2 and Monosialodihexosylganglioside (GM3) Biomarkers to Week 104 in Sialidosis Type 1 Participant
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1, GM2 and GM3 biomarkers in sialidosis type 1 participant of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP. Analysis was planned to be performed on sialidosis type 1 participant from secondary PD population (all enrolled participants with this clinical diagnosis who received at least 1 dose of study drug and who had baseline and post-baseline assessments of PD).
Time frame: Baseline (Day 1) and Week 104
PAP: SP: Percent Change From Baseline in Plasma and CSF GL-1, GM1 and GM3 Biomarkers to Week 104 in Juvenile/Adult Galactosialidosis Participants
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1, GM1 and GM3 biomarkers in juvenile/adult galactosialidosis participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP. Analysis was planned to be performed on juvenile/adult galactosialidosis participant from secondary PD population which included all enrolled participants with this clinical diagnosis who received at least 1 dose of study drug and who had baseline and post-baseline assessments of PD.
Time frame: Baseline (Day 1) and Week 104
PAP: SP: Percent Change From Baseline in Plasma and CSF GL-1 Biomarker to Week 104 in Saposin C Deficiency Participants
Plasma and CSF samples were planned to be collected at specified timepoints to assess the presence of GL-1 biomarkers in saposin C deficiency participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) to Week 104
PAP: PP: Absolute Change From Baseline in CSF GM2 Biomarker to Week 104
Lumbar puncture was performed for obtaining CSF samples at specified timepoints to assess the presence of GM2 biomarker in PP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) and Week 104
PAP: PP and SP: Change From Baseline in 25-foot Walk Test (25FWT) to Week 104
The 25FWT is a quantitative mobility and leg function performance test based on a timed 25-foot walk. The participant is directed to one end of a clearly marked 25-foot course and is instructed to walk 25 feet as quickly and safely as possible for 2 trials (can use assistive devices). The time is calculated from the initiation of the instruction to start and ends when the participant has reached the 25-foot mark. The amount of time (in seconds) to walk 25 feet is recorded (ranging up to 180 seconds). The 25FWT score is defined as the average of 2 trials. A higher value on the 25FWT is indicative of higher disability. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
Time frame: Baseline (Day 1) and Week 104
PAP: PP and SP: Change From Baseline in the Neurological Examination of the Friedreich's Ataxia Rating Scale (FARS) (FARS-neuro) to Week 104
The FARS-neuro includes 23 items and is composed of 4 sections that assesses different neurological faculties: bulbar activity (4 items), upper limb coordination (5 items assessed right and left side), lower limb coordination (2 items assessed right and left side), peripheral nervous system (5 items assessed right and left side) and upright stability (7 items). Total score is calculated as the sum of scores on items of this section and ranges from 0 to 117; mean is presented. Higher value indicates higher disability. Baseline=last available value before or equal to first dose of study drug date in PAP. PP: primary efficacy population: all randomized participants with diagnosis of late-onset GM2 gangliosidosis aged \>=18 years. SP: secondary efficacy population: all enrolled participants with diagnosis of juvenile/adolescent late-onset GM2 gangliosidosis, GM1 gangliosidosis, saposin C deficiency, sialidosis type 1, or juvenile/adult galactosialidosis.
Time frame: Baseline (Day 1) and Week 104
PAP: PP and SP: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) and Treatment-Emergent Serious Adverse Events (TESAEs)
An AE was any untoward medical occurrence in a participant or clinical study participant, temporally associated with the use of study drug, whether or not considered related to the study drug. SAE was any untoward medical occurrence that at any dose: resulted in death, was life-threatening, required inpatient hospitalization or prolongation of existing hospitalization, resulted in persistent disability/incapacity, was a congenital anomaly/birth defect or was an important medical event. TEAE were AEs that developed, worsened or became serious during the TE period.
Time frame: From first dose of study drug (Day 1) up to end of PAP, 104 weeks
PAP: PP: Plasma Venglustat Concentration
Plasma samples were collected at specified timepoints to obtain venglustat concentrations for PP in PAP.
Time frame: Pre-dose (0 hour) and 0.5, 3, 8, 12 and 24 hours post-dose at Week 12
PAP: SP: Plasma Venglustat Concentration
Plasma samples were collected at specified timepoints to obtain venglustat concentration for SP in PAP. Data is presented by dose level for all diseases combined for SP in PAP.
Time frame: Pre-dose (0 hour) and 0.5, 3, 8, 12 and 24 hours post-dose at Week 12
PAP: PP and SP: CSF Venglustat Concentration
CSF samples were collected via lumbar puncture at Week 104 to obtain venglustat concentrations for PP and SP in PAP. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
Time frame: Week 104
PAP: PP and SP: Maximum Plasma Concentration Observed (Cmax) of Venglustat
Plasma samples were collected at specified timepoints to obtain Cmax of venglustat. The mean of Cmax, irrespective of the timepoint where the patient-individual Cmax value was observed is presented as opposed to endpoint 13 wherein mean of plasma venglustat concentration at each specified timepoint is presented. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
Time frame: Pre-dose (0 hour) and 0.5, 3, 8, 12 and 24 hours post-dose at Week 12
PAP: PP and SP: Time to Reach Maximum Plasma Concentration (Tmax) of Venglustat
Plasma samples were collected at specified timepoints to obtain tmax of venglustat. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
Time frame: Pre-dose (0 hour) and 0.5, 3, 8, 12 and 24 hours post-dose at Week 12
PAP: PP and SP: Area Under the Plasma Concentration Versus Time Curve Calculated Over a Predefined Time Period 0 to 24 Hours (AUC0-24) of Venglustat
Plasma samples were collected at specified timepoints to obtain AUC0-24 of venglustat. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
Time frame: Pre-dose (0 hour) and 0.5, 3, 8, 12 and 24 hours post-dose at Week 12
PAP: SP: Percent Change From Baseline in the 9-HPT to Week 104
9-HPT is a test of upper extremity (arm and hand) function.Participant is seated at table with small, shallow container holding pegs \& block containing 9 empty holes.On start command (stopwatch started),participant picks up 9 pegs one at a time as quickly as possible, puts them in 9 holes \& once they are in holes, removes them again as quickly as possible one at a time,replacing them into shallow container,2 consecutive trials of dominant hand followed immediately by 2 consecutive trials of non-dominant hand.Total time (ranging up to 300 seconds):averaged, converted to reciprocals which were averaged and back-transformed to obtain global 9-HPT.Higher value indicates higher disability.Baseline: last available value before or equal to first dose of study drug date in PAP.Secondary efficacy population:all enrolled participants with diagnosis of juvenile/adolescent late-onset GM2 gangliosidosis,GM1 gangliosidosis,saposin C deficiency,sialidosis type 1 or juvenile/adult galactosialidosis.
Time frame: Baseline (Day 1) and Week 104
PAP: SP: Number of Participants With >=80% Compliance as Per Method of Intake
For the secondary pediatric population, the acceptability and palatability of venglustat tablets was assessed through the route of venglustat administration collected in the electronic case report form and study drug compliance throughout PAP. The assessment was based on tablet always swallowed as whole or chewed and swallowed at least once. Number of participants with \>=80% compliance for each is presented here.
Time frame: Baseline (Day 1) to Week 104
This study consisted of 2 periods: primary analysis period (PAP) \& open-label extension (OLE) period. In PAP, primary population (PP) was randomized in a 2:1 ratio to receive either venglustat or placebo in double-blind manner. Secondary population (SP) received OL venglustat. Post completion of PAP, eligible participants entered OLE in which all participants received OL venglustat. The study was early terminated based on absence of positive trends on clinical endpoints; no safety concerns.
| Milestone | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | OLE: PP: Delayed Venglustat | OLE: PP: Early Venglustat | OLE: SP: Venglustat |
|---|---|---|---|---|---|---|
| Started | 19 | 40 | 16 | 0 | 0 | 0 |
| Completed | 17 | 35 | 14 | 0 | 0 | 0 |
| Not completed | 2 | 5 | 2 | 0 | 0 | 0 |
| Withdrew: Withdrawal by subject | 2 | 5 | 1 | 0 | 0 | 0 |
| Withdrew: Other | 0 | 0 | 1 | 0 | 0 | 0 |
| Milestone | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | OLE: PP: Delayed Venglustat | OLE: PP: Early Venglustat | OLE: SP: Venglustat |
|---|---|---|---|---|---|---|
| Started | 0 | 0 | 0 | 16 | 34 | 14 |
| Completed | 0 | 0 | 0 | 0 | 0 | 0 |
| Not completed | 0 | 0 | 0 | 16 | 34 | 14 |
| Withdrew: Withdrawal by subject | 0 | 0 | 0 | 2 | 1 | 2 |
| Withdrew: Study terminated by sponsor | 0 | 0 | 0 | 13 | 33 | 12 |
| Withdrew: Adverse event | 0 | 0 | 0 | 1 | 0 | 0 |
Lumbar puncture was performed for obtaining CSF samples at specified timepoints to assess the presence of GM2 biomarker in PP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
| percent change | PAP: PP: Placebo | PAP: PP: Venglustat |
|---|---|---|
| PAP: PP: Percent Change From Baseline in CSF GM2 Biomarker to Week 104 | -11.33 ± 4.23 | -47.57 ± 3.04 |
9-HPT is a test of upper extremity (arm and hand) function.Participant is seated at table with small, shallow container holding pegs and block containing 9 empty holes.On start command when stopwatch is started,participant picks up 9 pegs one at a time as quickly as possible, puts them in 9 holes and once they are in holes, removes them again as quickly as possible one at a time,replacing them into shallow container. Both dominant and non-dominant hands are tested twice (2 consecutive trials of dominant hand followed immediately by 2 consecutive trials of non-dominant hand).Total time (ranging up to 300 seconds):averaged, converted to reciprocals which were averaged and back-transformed to obtain global 9-HPT.Higher value on 9-HPT is indicative of higher disability.Mean annualized rate of change in 9-HPT was obtained from exponential transformation of mean slope of log-transformed 9-HPT.Baseline: last available value before or equal to the first dose of study drug date in the PAP.
| percent per year | PAP: PP: Placebo | PAP: PP: Venglustat |
|---|---|---|
| PAP: PP: Annualized Rate of Change From Baseline in the 9-HPT to Week 104 | 0.95 ± 1.92 | 2.49 ± 1.35 |
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1 and GM2 biomarkers in juvenile/adolescent late-onset GM2 gangliosidosis participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
| percent change | PAP: SP: Venglustat |
|---|---|
| GL-1: CSF | -82.35 ± 9.94 |
| GL-1: Plasma | -79.28 ± 2.56 |
| GM2: CSF | -43.41 ± 23.14 |
| GM2: Plasma | -55.91 ± 11.76 |
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1 and GM1 biomarkers in GM1 gangliosidosis participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
| percent change | PAP: SP: Venglustat |
|---|---|
| GL-1: CSF | 17.42 ± 188.41 |
| GL-1: Plasma | -80.42 ± 8.17 |
| GM1: CSF | -32.35 ± 17.46 |
| GM1: Plasma | -52.32 ± 16.76 |
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1, GM2 and GM3 biomarkers in sialidosis type 1 participant of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP. Analysis was planned to be performed on sialidosis type 1 participant from secondary PD population (all enrolled participants with this clinical diagnosis who received at least 1 dose of study drug and who had baseline and post-baseline assessments of PD).
| percent change | PAP: SP: Venglustat |
|---|---|
| GL-1: CSF | NA |
| GL-1: Plasma | NA |
| GM2: CSF | NA |
| GM2: Plasma | NA |
| GM3: CSF | NA |
| GM3: Plasma | NA |
Plasma and CSF samples were collected at specified timepoints to assess the presence of GL-1, GM1 and GM3 biomarkers in juvenile/adult galactosialidosis participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP. Analysis was planned to be performed on juvenile/adult galactosialidosis participant from secondary PD population which included all enrolled participants with this clinical diagnosis who received at least 1 dose of study drug and who had baseline and post-baseline assessments of PD.
| percent change | PAP: SP: Venglustat |
|---|---|
| GL-1: CSF | NA |
| GL-1: Plasma | NA |
| GM1: CSF | NA |
| GM1: Plasma | NA |
| GM3: CSF | NA |
| GM3: Plasma | NA |
Plasma and CSF samples were planned to be collected at specified timepoints to assess the presence of GL-1 biomarkers in saposin C deficiency participants of SP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
No measurements were reported for this outcome.
Lumbar puncture was performed for obtaining CSF samples at specified timepoints to assess the presence of GM2 biomarker in PP in PAP. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
| ng/mL | PAP: PP: Placebo | PAP: PP: Venglustat |
|---|---|---|
| PAP: PP: Absolute Change From Baseline in CSF GM2 Biomarker to Week 104 | -17.64 ± 2.36 | -32.83 ± 1.70 |
The 25FWT is a quantitative mobility and leg function performance test based on a timed 25-foot walk. The participant is directed to one end of a clearly marked 25-foot course and is instructed to walk 25 feet as quickly and safely as possible for 2 trials (can use assistive devices). The time is calculated from the initiation of the instruction to start and ends when the participant has reached the 25-foot mark. The amount of time (in seconds) to walk 25 feet is recorded (ranging up to 180 seconds). The 25FWT score is defined as the average of 2 trials. A higher value on the 25FWT is indicative of higher disability. The baseline value was defined as the last available value before or equal to the first dose of study drug date in the PAP.
| seconds | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|---|
| PP | 1.4 ± 4.2 | 8.9 ± 31.0 | — |
| SP: juvenile/adolescent late-onset GM2 gangliodosis | — | — | 29.6 ± 66.5 |
| SP: GM1 gangliosidosis | — | — | 0.4 ± 0.8 |
The FARS-neuro includes 23 items and is composed of 4 sections that assesses different neurological faculties: bulbar activity (4 items), upper limb coordination (5 items assessed right and left side), lower limb coordination (2 items assessed right and left side), peripheral nervous system (5 items assessed right and left side) and upright stability (7 items). Total score is calculated as the sum of scores on items of this section and ranges from 0 to 117; mean is presented. Higher value indicates higher disability. Baseline=last available value before or equal to first dose of study drug date in PAP. PP: primary efficacy population: all randomized participants with diagnosis of late-onset GM2 gangliosidosis aged \>=18 years. SP: secondary efficacy population: all enrolled participants with diagnosis of juvenile/adolescent late-onset GM2 gangliosidosis, GM1 gangliosidosis, saposin C deficiency, sialidosis type 1, or juvenile/adult galactosialidosis.
| score on a scale | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|---|
| PP | 0.4 ± 6.0 | -1.0 ± 8.5 | — |
| SP: juvenile/adolescent late-onset GM2 gangliodosis | — | — | 2.8 ± 10.6 |
| SP: GM1 gangliosidosis | — | — | -2.5 ± 17.0 |
| SP: sialidosis type 1 | — | — | NA |
An AE was any untoward medical occurrence in a participant or clinical study participant, temporally associated with the use of study drug, whether or not considered related to the study drug. SAE was any untoward medical occurrence that at any dose: resulted in death, was life-threatening, required inpatient hospitalization or prolongation of existing hospitalization, resulted in persistent disability/incapacity, was a congenital anomaly/birth defect or was an important medical event. TEAE were AEs that developed, worsened or became serious during the TE period.
| Participants | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|---|
| TEAEs | 19 | 40 | 14 |
| TESAEs | 4 | 8 | 6 |
Plasma samples were collected at specified timepoints to obtain venglustat concentrations for PP in PAP.
| ng/mL | PAP: PP: Venglustat |
|---|---|
| 0 hour | 112 ± 43.7 |
| 0.5 hours | 125 ± 54.1 |
| 3 hours | 188 ± 60.8 |
| 8 hours | 149 ± 47.3 |
| 12 hours | 132 ± 44.5 |
| 24 hours | 105 ± 38.5 |
Plasma samples were collected at specified timepoints to obtain venglustat concentration for SP in PAP. Data is presented by dose level for all diseases combined for SP in PAP.
| ng/mL | PAP: SP: Venglustat |
|---|---|
| 4 mg: 0 hour | 56.4 |
| 4 mg: 3 hours | 144 |
| 4 mg: 8 hours | 101 |
| 4 mg: 12 hours | 92.3 |
| 4 mg: 24 hours | 58.1 |
| 6 mg: 0 hour | 61.5 ± 34.1 |
| 6 mg: 0.5 hours | 85.9 ± 56.8 |
| 6 mg: 3 hours | 127 ± 72.4 |
| 6 mg: 8 hours | 97.9 ± 55.6 |
| 6 mg: 12 hours | 87.9 ± 55.9 |
| 6 mg: 24 hours | 50.2 ± 25.5 |
| 12 mg: 0 hour | 58.4 ± 40.8 |
| 12 mg: 0.5 hours | 67.4 ± 36.4 |
| 12 mg: 3 hours | 112 ± 40.8 |
| 12 mg: 8 hours | 98.2 ± 22.0 |
| 12 mg: 12 hours | 79.3 ± 35.8 |
| 12 mg: 24 hours | 49.5 ± 17.4 |
| 15 mg: 0 hour | 67.7 ± 7.05 |
| 15 mg: 1.5 hours | 86.7 ± 35.0 |
| 15 mg: 3 hours | 124 ± 16.0 |
| 15 mg: 8 hours | 96.4 ± 10.2 |
| 15 mg: 12 hours | 88.9 ± 6.05 |
| 15 mg: 24 hours | 64.5 ± 13.5 |
CSF samples were collected via lumbar puncture at Week 104 to obtain venglustat concentrations for PP and SP in PAP. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
| ng/mL | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|
| PP | 5.64 ± 2.05 | — |
| SP: 6 mg | — | 3.37 ± 2.19 |
| SP: 12 mg | — | 3.22 ± 1.01 |
| SP: 15 mg | — | 5.41 ± 0.57 |
Plasma samples were collected at specified timepoints to obtain Cmax of venglustat. The mean of Cmax, irrespective of the timepoint where the patient-individual Cmax value was observed is presented as opposed to endpoint 13 wherein mean of plasma venglustat concentration at each specified timepoint is presented. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
| ng/mL | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|
| PP | 188 ± 60.8 | — |
| SP: 4 mg | — | 144 |
| SP: 6 mg | — | 127 ± 72.4 |
| SP: 12 mg | — | 121 ± 39.5 |
| SP: 15 mg | — | 124 ± 16.0 |
Plasma samples were collected at specified timepoints to obtain tmax of venglustat. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
| hour | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|
| PP | 3.00 (2.77 to 7.05) | — |
| SP: 4 mg | — | 3.50 |
| SP: 6 mg | — | 3.00 (2.25 to 3.02) |
| SP: 12 mg | — | 5.50 (3.00 to 12.00) |
| SP: 15 mg | — | 3.00 (3.00 to 3.00) |
Plasma samples were collected at specified timepoints to obtain AUC0-24 of venglustat. For SP: data is presented by dose level for all diseases combined. Only those participants with data collected at specified timepoints are reported.
| hour*ng/mL | PAP: PP: Venglustat | PAP: SP: Venglustat |
|---|---|---|
| PP | 3230 ± 1110 | — |
| SP: 4 mg | — | 2170 |
| SP: 6 mg | — | 1600 ± 765 |
| SP: 12 mg | — | 1840 ± 415 |
| SP: 15 mg | — | 2150 ± 275 |
9-HPT is a test of upper extremity (arm and hand) function.Participant is seated at table with small, shallow container holding pegs \& block containing 9 empty holes.On start command (stopwatch started),participant picks up 9 pegs one at a time as quickly as possible, puts them in 9 holes \& once they are in holes, removes them again as quickly as possible one at a time,replacing them into shallow container,2 consecutive trials of dominant hand followed immediately by 2 consecutive trials of non-dominant hand.Total time (ranging up to 300 seconds):averaged, converted to reciprocals which were averaged and back-transformed to obtain global 9-HPT.Higher value indicates higher disability.Baseline: last available value before or equal to first dose of study drug date in PAP.Secondary efficacy population:all enrolled participants with diagnosis of juvenile/adolescent late-onset GM2 gangliosidosis,GM1 gangliosidosis,saposin C deficiency,sialidosis type 1 or juvenile/adult galactosialidosis.
| percent change | PAP: SP: Venglustat |
|---|---|
| Juvenile/adolescent late-onset GM2 gangliodosis | -1.2 ± 24.5 |
| GM1 gangliosidosis | 11.7 ± 34.9 |
| Sialidosis type 1 | NA |
For the secondary pediatric population, the acceptability and palatability of venglustat tablets was assessed through the route of venglustat administration collected in the electronic case report form and study drug compliance throughout PAP. The assessment was based on tablet always swallowed as whole or chewed and swallowed at least once. Number of participants with \>=80% compliance for each is presented here.
| Participants | PAP: SP: Venglustat |
|---|---|
| Participants always swallowed the tablet as whole | 8 |
| Participants chewed and swallowed the tablet at least once | 4 |
Collected over Adverse events:From first dose of study drug (Day 1) up to 104 weeks (PAP) and from 104 weeks up to 6 weeks post last drug in OLE, maximum duration 200 weeks due to study termination. Deaths were collected from first dose of study drug (Day 1) up to end of follow-up, maximum 200 weeks due to study termination.. Non-serious events are listed at a 5% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| PAP: PP: Placebo | 0/19 (0%) | 4/19 (21.1%) | 19/19 (100%) |
| PAP: PP: Venglustat | 0/40 (0%) | 8/40 (20%) | 38/40 (95%) |
| PAP: SP: Venglustat | 1/16 (6.3%) | 6/16 (37.5%) | 14/16 (87.5%) |
| OLE: PP: Delayed Venglustat | 1/16 (6.3%) | 4/16 (25%) | 11/16 (68.8%) |
| OLE: PP: Early Venglustat | 0/34 (0%) | 2/34 (5.9%) | 19/34 (55.9%) |
| OLE: SP: Venglustat | 0/14 (0%) | 2/14 (14.3%) | 9/14 (64.3%) |
| Event | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | OLE: PP: Delayed Venglustat | OLE: PP: Early Venglustat | OLE: SP: Venglustat |
|---|---|---|---|---|---|---|
| Infected BiteInfections and infestations | 0/19 | 0/40 | 0/16 | 0/16 | 0/34 | 1/14 |
| Upper Respiratory Tract InfectionInfections and infestations | 0/19 | 0/40 | 0/16 | 0/16 | 0/34 | 1/14 |
| Respiratory Tract Infection ViralInfections and infestations | 0/19 | 0/40 | 1/16 | 0/16 | 0/34 | 0/14 |
| Acute PsychosisPsychiatric disorders | 0/19 | 0/40 | 1/16 | 0/16 | 0/34 | 0/14 |
| Completed SuicidePsychiatric disorders | 0/19 | 0/40 | 0/16 | 1/16 | 0/34 | 0/14 |
| Suicidal IdeationPsychiatric disorders | 0/19 | 0/40 | 0/16 | 1/16 | 0/34 | 0/14 |
| DyskinesiaNervous system disorders | 0/19 | 0/40 | 1/16 | 0/16 | 0/34 | 0/14 |
| Respiratory FailureRespiratory, thoracic and mediastinal disorders | 0/19 | 0/40 | 1/16 | 0/16 | 0/34 | 0/14 |
| DysphagiaGastrointestinal disorders | 0/19 | 0/40 | 1/16 | 1/16 | 0/34 | 0/14 |
| VomitingGastrointestinal disorders | 0/19 | 0/40 | 1/16 | 0/16 | 0/34 | 0/14 |
| Event | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | OLE: PP: Delayed Venglustat | OLE: PP: Early Venglustat | OLE: SP: Venglustat |
|---|---|---|---|---|---|---|
| FallInjury, poisoning and procedural complications | 10/19 | 22/40 | 2/16 | 2/16 | 4/34 | 0/14 |
| Covid-19Infections and infestations | 3/19 | 13/40 | 7/16 | 2/16 | 2/34 | 1/14 |
| NasopharyngitisInfections and infestations | 1/19 | 1/40 | 5/16 | 2/16 | 1/34 | 1/14 |
| HeadacheNervous system disorders | 4/19 | 10/40 | 4/16 | 2/16 | 3/34 | 1/14 |
| ContusionInjury, poisoning and procedural complications | 4/19 | 9/40 | 0/16 | 2/16 | 0/34 | 0/14 |
| CoughRespiratory, thoracic and mediastinal disorders | 2/19 | 8/40 | 2/16 | 0/16 | 0/34 | 0/14 |
| VomitingGastrointestinal disorders | 1/19 | 4/40 | 3/16 | 1/16 | 0/34 | 0/14 |
| ArthralgiaMusculoskeletal and connective tissue disorders | 3/19 | 7/40 | 2/16 | 3/16 | 0/34 | 0/14 |
| NauseaGastrointestinal disorders | 3/19 | 7/40 | 1/16 | 2/16 | 1/34 | 0/14 |
| ConstipationGastrointestinal disorders | 3/19 | 4/40 | 1/16 | 1/16 | 2/34 | 1/14 |
Randomized population included all participants from screened population who were allocated to a randomized study drug by interactive response technology regardless of whether the study drug was received or not.
| Age, Continuous(years) | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | Total |
|---|---|---|---|---|
| Mean | 37.8 ± 15.4 | 37.0 ± 13.3 | 12.4 ± 7.3 | 32.0 ± 16.3 |
| Sex: Female, Male(Participants) | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | Total |
|---|---|---|---|---|
| Female | 10 | 19 | 11 | 40 |
| Male | 9 | 21 | 5 | 35 |
| Race (NIH/OMB)(Participants) | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | Total |
|---|---|---|---|---|
| American Indian or Alaska Native | 0 | 0 | 0 | 0 |
| Asian | 0 | 3 | 2 | 5 |
| Native Hawaiian or Other Pacific Islander | 0 | 0 | 0 | 0 |
| Black or African American | 0 | 0 | 1 | 1 |
| White | 17 | 35 | 12 | 64 |
| More than one race | 0 | 0 | 0 | 0 |
| Unknown or Not Reported | 2 | 2 | 1 | 5 |
| PP: Cerebrospinal fluid (CSF) GM2 biomarker(nanogram/milliliter (ng/mL)) | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | Total |
|---|---|---|---|---|
| Mean | 67.11 ± 34.15 | 63.00 ± 36.84 | — | 64.30 ± 35.76 |
| PP: 9-hole peg Test (9-HPT)(seconds) | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | Total |
|---|---|---|---|---|
| Mean | 45.89 ± 34.65 | 41.93 ± 26.56 | — | 43.20 ± 29.16 |
| Clinical diagnosis of SP(Participants) | PAP: PP: Placebo | PAP: PP: Venglustat | PAP: SP: Venglustat | Total |
|---|---|---|---|---|
| Juvenile/adolescent GM2 gangliosidosis | — | — | 7 | 7 |
| GM1 gangliosidosis | — | — | 7 | 7 |
| Saposin C deficiency | — | — | 0 | 0 |
| Sialidosis type 1 | — | — | 1 | 1 |
| Juvenile/adult galactosialidosis | — | — | 1 | 1 |
PDFs hosted by the registry, ClinicalTrials.gov.
Plan to share: 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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Studies of the drug tested here: Venglustat