AMETHIST: 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 (EFC15299)

Brief description of study

The purpose of the study is to assess the possible risks, effectiveness, pharmacodynamics (study of the effects of the drugs on the body), and pharmacokinetics (study of how drug is handled [distributed, broken down, and eliminated] by the body) of venglustat in patients with gangliosidosis and allied diseases. The effects of venglustat will be assessed by measuring the level of some substances in the cerebrospinal fluid (fluid removed from you with a spinal needle placed briefly into your lower back) and by the participants completing a range of assessments such as performing tasks (especially with the hands), walking, and speaking. In addition, the study will examine how the body handles (distributes, breaks down, and eliminates) venglustat by measuring the amount of venglustat that gets into the blood after it is given to participants.

Clinical Study Identifier: s19-01536 Identifier: NCT04221451
Principal Investigator: Heather Ann Lau.
Other Investigator: Dinesh Lulla.

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