Could a pill replace infusions for gaucher brain symptoms?
NCT ID NCT02843035
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 2 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.
Disclaimer
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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Baylor Institute of Metabolic Diseases Site Number : 840001
Dallas, Texas, 75226, United States
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Investigational Site Number : 276001
Mainz, 55131, Germany
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Investigational Site Number : 392001
Minato-ku, Tokyo, 105-8471, Japan
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Investigational Site Number : 826002
Salford, Manchester, M6 8HD, United Kingdom
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Investigational Site Number : 826003
Cambridge, Cambridgeshire, CB2 OQQ, United Kingdom
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Lysosomal and Rare Disorders Research and Treatment Center, Inc Site Number : 840003
Fairfax, Virginia, 22030, United States
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Yale University School of Medicine Site Number : 840002
New Haven, Connecticut, 06520, United States