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Showing 1–24 of 91 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Glucosylceramide Beta-Glucosidase Deficiency Disease Clear all
Recruiting No phase listed Observational

A Long-term Follow-up Study of Gaucher Disease

NCT03190837
View directory record Official record
Conditions
Gaucher Disease
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
200 participants
Timeline
2017 – 2027
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 21, 2025 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase

NCT00478647
View directory record Official record
Conditions
Gaucher Disease
Interventions
GA-GCB (velaglucerase alfa)
Biological
Lead sponsor
Shire
Industry
Eligibility
2 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
11
States / cities
Los Angeles, California • Oakland, California • Decatur, Georgia + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 9, 2021 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 3 Interventional Results available

Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease

NCT00553631
View directory record Official record
Conditions
Gaucher Disease, Type 1
Interventions
velaglucerase alfa, imiglucerase
Biological
Lead sponsor
Shire
Industry
Eligibility
2 Years and older
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 7, 2021 · Synced Jul 21, 2026, 6:02 PM EDT
Not listed Phase 2 Interventional

Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease

NCT00004293
View directory record Official record
Conditions
Gaucher's Disease
Interventions
glucocerebrosidase
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 6:02 PM EDT
Active, not recruiting Phase 3 Interventional

Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

NCT05222906
View directory record Official record
Conditions
Gaucher's Disease Type III
Interventions
Venglustat, imiglucerase
Drug
Lead sponsor
Sanofi
Industry
Eligibility
12 Years and older
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
4
States / cities
New Haven, Connecticut • Iowa City, Iowa • Dallas, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 21, 2026, 6:02 PM EDT
Recruiting No phase listed Observational

MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)

NCT05586243
View directory record Official record
Conditions
Gaucher Disease, Type 3
Interventions
No intervention
Other
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 80 Years
Enrollment
5 participants
Timeline
2023 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 3 Interventional Results available

A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)

NCT00943111
View directory record Official record
Conditions
Gaucher Disease, Type 1
Interventions
Eliglustat tartrate, Imiglucerase
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
17
States / cities
Beverly Hills, California • San Francisco, California • Aurora, Colorado + 13 more
Source: ClinicalTrials.gov public record
Updated Nov 24, 2016 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 2 Interventional Results available

A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy

NCT00433147
View directory record Official record
Conditions
Gaucher Disease, Type 1, Type 1 Gaucher Disease, Gaucher Disease
Interventions
Afegostat tartrate
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 74 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
10
States / cities
San Francisco, California • Coral Springs, Florida • Decatur, Georgia + 7 more
Source: ClinicalTrials.gov public record
Updated Sep 24, 2018 · Synced Jul 21, 2026, 6:02 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism

NCT01358474
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease, Idiopathic Rapid Eye Movement Sleep Disorder
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 85 Years
Enrollment
56 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2018
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 17, 2019 · Synced Jul 21, 2026, 6:02 PM EDT
Recruiting No phase listed Observational

Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

NCT02437396
View directory record Official record
Conditions
Gaucher Disease Type I, Oxidative Stress, Inflammation
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years to 75 Years
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 21, 2026, 6:02 PM EDT
Completed No phase listed Observational

A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease

NCT00465062
View directory record Official record
Conditions
Gaucher Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 21, 2026, 6:02 PM EDT
Completed No phase listed Observational

Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease

NCT00244582
View directory record Official record
Conditions
Type 2 Gaucher Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Up to 5 Years · Male only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 1 Interventional

Human Placental-Derived Stem Cell Transplantation

NCT01586455
View directory record Official record
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease, Metachromatic Leukodystrophy, Wolman Disease, Krabbe's Disease, Gaucher's Disease, Fucosidosis, Batten Disease, Severe Aplastic Anemia, Diamond-Blackfan Anemia, Amegakaryocytic Thrombocytopenia, Myelodysplastic Syndrome, Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia
Interventions
Human Placental Derived Stem Cell
Drug
Lead sponsor
New York Medical College
Other
Eligibility
0 Years to 55 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2022
U.S. locations
3
States / cities
Denver, Colorado • Valhalla, New York • Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Oct 24, 2022 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Evaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the Mouth

NCT06193304
View directory record Official record
Conditions
Gaucher's Disease
Interventions
Eliglustat
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years to 55 Years
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014
U.S. locations
1
States / cities
Evansville, Indiana
Source: ClinicalTrials.gov public record
Updated Jan 4, 2024 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 4 Interventional Results available

Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease

NCT00364858
View directory record Official record
Conditions
Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease, Gaucher Disease, Non-Neuronopathic Form
Interventions
Cerezyme
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2007
U.S. locations
18
States / cities
Washington D.C., District of Columbia • Coral Springs, Florida • Atlanta, Georgia + 14 more
Source: ClinicalTrials.gov public record
Updated Apr 2, 2015 · Synced Jul 21, 2026, 6:02 PM EDT
Completed No phase listed Observational

Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

NCT01136304
View directory record Official record
Conditions
Gaucher Disease
Interventions
Imiglucerase
Drug
Lead sponsor
University Research Foundation for Lysosomal Storage Diseases, Inc.
Other
Eligibility
18 Years and older
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
2
States / cities
Beverly Hills, California • Coral Springs, Florida
Source: ClinicalTrials.gov public record
Updated May 31, 2015 · Synced Jul 21, 2026, 6:02 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Drug Discovery for Parkinson's With Mutations in the GBA Gene

NCT05536388
View directory record Official record
Conditions
Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
Interventions
Biological Sample Collection
Other
Lead sponsor
New York Stem Cell Foundation Research Institute
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 2, 2025 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Stem Cell Transplant for Inborn Errors of Metabolism

NCT00176904
View directory record Official record
Conditions
Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease, Fucosidosis, Wolman Disease, Niemann-Pick Disease, Batten Disease, GM1 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
Interventions
Stem Cell Transplant, Busulfan, Cyclophosphamide, Antithymocyte Globulin
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Not listed
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2010
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 27, 2017 · Synced Jul 21, 2026, 6:02 PM EDT
Suspended Phase 1Phase 2 Interventional

Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease

NCT01463215
View directory record Official record
Conditions
Type I Gaucher Disease
Interventions
Ambroxol
Drug
Lead sponsor
Exsar Corporation
Industry
Eligibility
16 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Monmouth Junction, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 14, 2013 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers

NCT06188325
View directory record Official record
Conditions
Gaucher's Disease
Interventions
Eliglustat
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 9, 2024 · Synced Jul 21, 2026, 6:02 PM EDT
Recruiting No phase listed Observational

Registry of Patients Diagnosed With Lysosomal Storage Diseases

NCT05619900
View directory record Official record
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease
Interventions
There is no intervention
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 64 Years
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2050
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 2 Interventional

Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease

NCT00004488
View directory record Official record
Conditions
Gaucher's Disease, Osteopenia
Interventions
alendronate sodium, calcium carbonate, cholecalciferol
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 50 Years
Enrollment
82 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2002
U.S. locations
2
States / cities
Cincinnati, Ohio • Dayton, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced Jul 21, 2026, 6:02 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)

NCT04411654
View directory record Official record
Conditions
Gaucher Disease, Type 2
Interventions
LY3884961, Methylprednisolone, Sirolimus, Prednisone
Genetic · Drug
Lead sponsor
Prevail Therapeutics
Industry
Eligibility
0 Months to 24 Months
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2028
U.S. locations
4
States / cities
Oakland, California • Minneapolis, Minnesota • Pittsburgh, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Mar 31, 2026 · Synced Jul 21, 2026, 6:02 PM EDT
Completed Phase 2 Interventional

OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease

NCT00041535
View directory record Official record
Conditions
Gaucher Disease
Interventions
OGT 918
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
4 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 21, 2026, 6:02 PM EDT