Venglustat for Tay-Sachs Disease

(AMETHIST Trial)

Recruiting at 34 trial locations

Overseen By Trial Transparency email recommended (Toll free number for US & Canada)

Age: Any Age

Sex: Any

Trial Phase: Phase 3

Sponsor: Genzyme, a Sanofi Company

Must not be taking: Anticoagulants, Cataractogenic, CYP3A4 inducers

Disqualifiers: Hepatitis B/C, HIV, Cataracts, others

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

Duration: 104 weeks

75 Participants Needed

Trial Summary

What is the purpose of this trial?

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

Research Team

Clinical Sciences & Operations

Principal Investigator

Sanofi

Eligibility Criteria

Adults and juveniles with late-onset GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) can join this trial. Adults must be over 18, while juveniles should be at least 2 years old but under 18 and weigh more than 10 kg. Participants need to control any seizures with certain medications, not have other health issues that could interfere, and agree to use contraception if applicable.

Inclusion Criteria

I can take pills, travel to the study site, and follow the study's requirements.

My seizures are under control with medication that doesn't strongly affect CYP3A4.

I have been diagnosed with a specific genetic disorder affecting my nervous system.

Exclusion Criteria

I do not have any health conditions that would make the trial unsafe for me.

Current participation in another study

I am currently taking medication that could affect my vision or worsen cataracts.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

8-9 weeks

Treatment

Participants receive daily oral dosing of venglustat or placebo for 104 weeks

104 weeks

Open-label extension

Participants receive venglustat dose once daily during the open-label extension period

104 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

6 weeks

Treatment Details

Interventions

• Placebo
• Venglustat

Trial Overview The study is testing the effectiveness of a drug called Venglustat taken daily for two years compared to a placebo. It will look at how well it works (efficacy), its effects on the body (pharmacodynamics), how it's processed by the body (pharmacokinetics), and its safety in patients with Tay-Sachs or Sandhoff disease.

Participant Groups

Group I: GZ402671 Experimental Treatment 1 Intervention

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).

Group II: Placebo Placebo Group 1 Intervention

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).

Who Is Running the Clinical Trial?

Genzyme, a Sanofi Company

Lead Sponsor

Trials

528

Recruited

186,000+

David Meeker

Genzyme, a Sanofi Company

Chief Executive Officer since 2011

MD from the University of Vermont Medical School, Advanced Management Program at Harvard Business School

Jean-Paul Kress

Genzyme, a Sanofi Company

Chief Medical Officer since 2015

MD from Faculte Necker-Enfants Malades, Paris