Could a pill replace infusions for gaucher brain symptoms?

NCT ID NCT02843035

Ongoing Disease control Sponsor: Genzyme, a Sanofi Company Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jul 10, 2026 · Updated 3 times

Summary

This phase 2 trial tests an oral drug called venglustat, given alongside the standard enzyme therapy Cerezyme, in adults with Gaucher disease type 3 (a rare genetic disorder affecting the body and brain). The study has four parts: first, it checks spinal fluid biomarkers to distinguish type 3 from type 1; then it evaluates safety and effects of the combination over the short and long term; finally, it explores switching to venglustat alone. Only 12 participants are enrolled, and the main goals are safety and measuring changes in key substances linked to the disease.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance: venglustat (oral drug) and imiglucerase (Cerezyme, intravenous enzyme replacement)
What this could lead to: If successful, this could lead to a new oral treatment option for Gaucher disease type 3, possibly reducing or replacing enzyme infusions.
What could go wrong: This is a small, early-phase study with only 12 participants. It primarily measures safety and biomarkers, not proven clinical benefit. The drug may not improve neurological symptoms or could cause side effects.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for GAUCHER DISEASE TYPE 1 are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

Gaucher disease Gaucher disease type I Gaucher disease type III

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GAUCHER DISEASE TYPE 1 GAUCHER DISEASE, TYPE 3

Contacts and locations

Locations

Baylor Institute of Metabolic Diseases Site Number : 840001

Dallas, Texas, 75226, United States
Investigational Site Number : 276001

Mainz, 55131, Germany
Investigational Site Number : 392001

Minato-ku, Tokyo, 105-8471, Japan
Investigational Site Number : 826002

Salford, Manchester, M6 8HD, United Kingdom
Investigational Site Number : 826003

Cambridge, Cambridgeshire, CB2 OQQ, United Kingdom
Lysosomal and Rare Disorders Research and Treatment Center, Inc Site Number : 840003

Fairfax, Virginia, 22030, United States
Yale University School of Medicine Site Number : 840002

New Haven, Connecticut, 06520, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.