Rare disease
Gaucher Disease
Clinical trials recruiting in Australia for Gaucher Disease, a rare disease, as the public registries list them.
Also called: Acid beta-glucosidase deficiency; Glucocerebrosidase deficiency; Gaucher's disease; Glucosylceramidase deficiency; Glucocerebrosidosis
Follow this condition Browse A to Z Browse by body system
At a glance
2 trials recruiting in Australia
32 trials recruiting overseas
1-9 / 100 000 (Point prevalence, Europe, Validated) prevalence
All ages age of onset
15 October 2026 date last checked
Trials in Australia
This Australian count is likely to be on the low side. It counts the trials this site files under this condition; the registry’s own search is broader and also returns closely related conditions, some of which have their own page here. If you are searching widely, check the registry as well — every trial below links to its own record.
-
Recruiting Not a phased study
Study for people with Gaucher Disease
Where- Investigational Site Number : 151431, Sydney (NSW) — Terminated
- Investigational Site Number : 151069, Westmead (NSW) — Recruiting
- Investigational Site Number : 151010, Brisbane (QLD) — Completed
- Investigational Site Number : 151491, Townsville (QLD) — Completed
- Investigational Site Number : 151002, Adelaide (SA) — Recruiting
- Investigational Site Number : 151725, Hobart (TAS) — Recruiting
- Investigational Site Number : 151011, Clayton (VIC) — Recruiting
- Investigational Site Number : 151008, Parkville (VIC) — Recruiting
- Investigational Site Number : 151015, Murdoch (WA) — Recruiting
Who can join Age child, adult, older adult. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Genzyme, a Sanofi CompanyTimelineStarted 1 April 1991 Today 16 October 2026 Estimated completion 31 January 2034NCT00358943 · Checked 15 October 2026
-
Recruiting Phase 3
Phase 3 study for people with Gaucher Disease
WhereNo Australian site on this record is listed as recruiting right now, even though the trial itself is open. Check with the site or the official record before travelling.
- Melbourne Health - Royal Melbourne Hospital, Melbourne N. (VIC) — Not yet recruiting
Who can join Age 18 Years and over. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Spur TherapeuticsTimelineStarted 7 April 2026 Today 16 October 2026 Estimated completion 1 July 2028NCT07223944 · Checked 15 October 2026
Trials overseas
32 trials for this disease are open to new participants outside Australia, as ClinicalTrials.gov listed them on 11 October 2026. Voxsanity does not publish a page for any of them; the searches below reach them at the registry.
These overseas counts are likely too high. They come from the registry’s own search, which expands a condition name to related conditions, so some of the trials counted are for a different disease in the same family.
Search ClinicalTrials.gov Search the WHO registry portal Joining a trial overseas
Trials not shown here
Some Australian trials are registered only on the Australian New Zealand Clinical Trials Registry and are not shown here. Search them at Australian Clinical Trials.
Key facts
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com).
About Gaucher Disease
The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. There are three types: - Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age. - Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2. - In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3. NIH: National Institute of Neurological Disorders and Stroke
US source; availability in Australia may differ.
Source: MedlinePlus Health Topics (medlineplus.gov), public domain (U.S. National Library of Medicine). Read the full source.
Sources and dates
- ClinicalTrials.gov – trial records, statuses and site lists
- MedlinePlus – the About text above, reproduced exactly
- Orphanet / Orphadata – prevalence, age of onset, inheritance, genes and alternative names, used under CC BY 4.0
- ClinicalTrials.gov processing date: 14 October 2026.
- This page last checked by Voxsanity: 15 October 2026.
Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.
Not medical advice.
Individual trial records are refreshed on a rolling basis rather than all at once, so a record may be up to several weeks old. Each trial page and trial card shows the date its own record was last synced. Where a record has lagged, its status, sites and enrolment can differ from the current registry state in either direction, so check the registry link on the trial page before acting on them.
Orphanet citation
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com). Accessed 20 September 2026.
Gaucher Disease is one of the rare diseases tracked on the Voxsanity rare disease hub, where you can compare it with every other rare condition we follow and filter trials by country.
Tell us which conditions matter to you
We use requests to help decide what to add next. Telling us about a condition is not a promise that we will add it, and we cannot say when any condition might appear.