RecruitingPhase 3NCT07223944
Metabolic
Gaucher Disease
Also known as Glucocerebrosidase deficiency, GBA deficiency, Glucocerebrosidosis
Gaucher disease is the most common lysosomal storage disorder. A deficiency of the enzyme glucocerebrosidase causes glucocerebroside to accumulate in macrophages of the liver, spleen, and bone marrow.
24
studies recruiting now
as of 7 Sept 2026
179
studies registered in total
as of 7 Sept 2026
10
countries with a recruiting site
as of 7 Sept 2026
11 Aug 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03190837
A Long-term Follow-up Study of Gaucher Disease
RecruitingNCT00029965
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
RecruitingNCT07758816
Advancing Integrated Therapies for Gaucher Disease
RecruitingNCT05586243
MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 24 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Gaucher Disease study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: ICGG Gaucher Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Gaucher Disease
Gaucher disease is the most common lysosomal storage disorder. A deficiency of the enzyme glucocerebrosidase causes glucocerebroside to accumulate in macrophages of the liver, spleen, and bone marrow. Type 1 is non-neuronopathic and most prevalent. Types 2 and 3 involve the nervous system. Treatment with enzyme replacement therapy or substrate reduction therapy has transformed outcomes for Type 1.
Common clinical features
HepatomegalySplenomegalyAnemiaFatigueDecreased beta-glucocerebrosidase levelDelayed skeletal maturationRecurrent fracturesArthralgia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
7 approved treatments and 9 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: EliglustatApproved: Eliglustat Tartrate (Cerdelga)Approved: Imiglucerase (Cerezyme)Approved: Velaglucerase Alfa (Vpriv)Approved: Taliglucerase Alfa (Elelyso)Approved: Olipudase Alfa (Xenpozyme)Approved: Miglustat (Miglustat dipharma)
Phase 3Vitamin E (Aquasol e)
Phase 2/3Busulfan (Busilvex)
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2Afegostat
Phase 2Alglucerase (Ceredase)
Phase 2Ambroxol
Phase 2Arimoclomol
Phase 2Afegostat Tartrate
+ 1 more in development
Before you apply
Things trial teams commonly ask about for Gaucher Disease. Not eligibility rules; those are set by each study.
- Type 1, 2, or 3 Gaucher disease determines which trials you are eligible for
- Spleen volume and platelet count are common baseline measurements in trials
- GBA carrier status is associated with Parkinson risk - some trials explore this connection
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).