NCT04221451

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway

• Status: Terminated
• Phase: Phase 3
• Study type: Interventional
• Enrollment: 75 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: 2 Years
• Healthy volunteers: Accepted

Summary

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: * To assess the PD of daily oral dosing of venglustat and the effect of venglustat on selected performance test and scale over a 104-week period * To determine the safety and tolerability of venglustat when administered orally once daily over a 104-week period * To assess the pharmacokinetics (PK) of venglustat in plasma and cerebrospinal fluid (CSF) Secondary population: * To assess the effect of venglustat on selected performance tests and scale over a 104-week period * To determine the safety and tolerability of venglustat when administered once daily over a 104-week period * To assess the PK of venglustat in plasma and CSF * To assess the acceptability and palatability of the venglustat tablet

Detailed description

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.

Conditions

• Tay-Sachs Disease
• Sandhoff Disease

Interventions

Type	Name	Description
DRUG	venglustat GZ402671	Pharmaceutical form: tablet Route of administration: oral
DRUG	placebo	Pharmaceutical form: tablet Route of administration: oral

Timeline

• Start date: 2020-06-29
• Primary completion: 2024-12-26
• Completion: 2024-12-26
• First posted: 2020-01-09
• Last updated: 2026-01-28
• Results posted: 2026-01-28

Locations

23 sites across 13 countries: United States, Argentina, Brazil, Czechia, France, Germany, Italy, Japan, Portugal, Russia, Spain, Turkey (Türkiye), United Kingdom

Regulatory

• FDA-regulated drug study