| Not Yet Recruiting | A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Ve NCT05669729 | Takeda | — |
| Active Not Recruiting | A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease NCT06528080 | Shanghai Jiao Tong University School of Medicine | EARLY_Phase 1 |
| Not Yet Recruiting | Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3 NCT06523517 | Peking Union Medical College Hospital | Phase 2 |
| Recruiting | Institutional Registry of Rare Diseases NCT06573723 | Hospital Italiano de Buenos Aires | — |
| Recruiting | FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases NCT06539169 | xCures | — |
| Not Yet Recruiting | Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency NCT06258577 | Chung-Hsing Wang | — |
| Completed | Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using NCT05908656 | Sanofi | N/A |
| Active Not Recruiting | Long Term Follow-Up for Safety of AVR-RD-02 NCT06488261 | John Bernat | — |
| Unknown | Biomarkers Related to Bone in Pediatric Gaucher Disease NCT06116071 | Lysosomal and Rare Disorders Research and Treatment Center, Inc. | — |
| Recruiting | Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease NCT05843552 | University of Minnesota | — |
| Recruiting | GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Mo NCT05992532 | Fundación Española de Hematología y Hemoterapía | — |
| Unknown | Assessment of Neurological Manifestations in Gaucher Disease Patients NCT05816993 | Assiut University | — |
| Completed | A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition NCT05702814 | Takeda | — |
| Completed | PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" NCT05641103 | Fundación Española de Hematología y Hemoterapía | — |
| Completed | Role of Vitamin E in Gaucher Disease Patients NCT06211478 | Ain Shams University | Phase 3 |
| Completed | A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease NCT05529992 | Takeda | Phase 3 |
| Recruiting | A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) NCT05487599 | Prevail Therapeutics | Phase 1 / Phase 2 |
| Active Not Recruiting | Omics Gaucher Study: Multiomic Approach NCT05526664 | CENTOGENE GmbH Rostock | — |
| Recruiting | Drug Discovery for Parkinson's With Mutations in the GBA Gene NCT05536388 | New York Stem Cell Foundation Research Institute | — |
| Completed | Digital Health Platform Customized for Patients With Gaucher Disease NCT04997772 | Shoshana Vilk | — |
| Completed | Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India NCT04429984 | Shire | — |
| Enrolling By Invitation | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program NCT05368038 | Albert Einstein College of Medicine | — |
| Completed | A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treate NCT04718779 | Takeda | Phase 4 |
| Completed | A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease NCT04721366 | Takeda | — |
| Withdrawn | Complement Activation in the Lysosomal Storage Disorders NCT04189601 | Melbourne Health | — |
| Unknown | Getting Global Rare Disease Insights Through Technology Study NCT04758130 | M.A.G.I.C. Clinic LTD | N/A |
| Unknown | World Data on Ambroxol for Patients With GD and GBA Related PD NCT04388969 | Shaare Zedek Medical Center | — |
| Completed | A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers NCT04787887 | ISU Abxis Co., Ltd. | Phase 1 |
| Terminated | A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapi NCT04094181 | Shire | — |
| Terminated | Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease NCT04145037 | AVROBIO | Phase 1 / Phase 2 |
| Completed | Therapeutic Exercise to Treat Neuropathic Pain NCT04050137 | Universidad de Zaragoza | N/A |
| Recruiting | The GBA Multimodal Study in Parkinson's Disease NCT04101968 | Pacific Parkinson's Research Centre | — |
| Terminated | Liver and the Spleen Stifness in Adult Patients With Gaucher's Disease Using Ultrasound Shear Wave Elastograph NCT03896607 | HaEmek Medical Center, Israel | — |
| Completed | Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease NCT02416661 | CENTOGENE GmbH Rostock | — |
| Unknown | Clinical Audit of Managment of Gausher Disease in Children NCT03590548 | Yasmeen Abd Elbaset Hamzaa | — |
| Unknown | Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. NCT03721627 | Mansoura University Children Hospital | Phase 4 |
| Unknown | Biomarker Analysis for GBA Associated Parkinson's Disease NCT03811496 | Lysosomal and Rare Disorders Research and Treatment Center, Inc. | — |
| Recruiting | A Long-term Follow-up Study of Gaucher Disease NCT03190837 | Duke University | — |
| Completed | Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants W NCT02574286 | Shire | Phase 4 |
| Completed | Genzyme Osteopenia/Osteoporosis Study NCT02785744 | NYU Langone Health | — |
| Completed | Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 NCT02536755 | Genzyme, a Sanofi Company | Phase 3 |
| Completed | A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate NCT02536911 | Genzyme, a Sanofi Company | Phase 1 |
| Completed | A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate NCT02536937 | Sanofi | Phase 1 |
| Completed | A National Study in Patients With Unexplained Splenomegaly NCT04430881 | Sanofi | — |
| Unknown | Miglustat on Gaucher Disease Type IIIB NCT02520934 | National Taiwan University Hospital | N/A |
| Unknown | SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease NCT02605603 | Lysosomal and Rare Disorders Research and Treatment Center, Inc. | — |
| Completed | Taste Evaluation of Different Liquid Formulations With Eliglustat NCT02422654 | Genzyme, a Sanofi Company | Phase 1 |
| Completed | Survey Study for Velaglucerase Alfa (VPRIV) in Japan NCT03625882 | Takeda | — |
| Completed | An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 NCT02107846 | Protalix | Phase 2 |
| Unknown | Investigating Lysosomal Storage Diseases in Minority Groups NCT02120235 | O & O Alpan LLC | — |
| Completed | Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease NCT01842841 | Shire | Phase 3 |
| Completed | Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients NCT01747980 | Protalix | Phase 1 |
| Unknown | Intra-monocyte Imiglucerase Kinetics in Gaucher Disease NCT01951989 | University Hospital, Clermont-Ferrand | Phase 2 |
| Unknown | Identification of Undiagnosed Gaucher Disease NCT01716741 | Brigham and Women's Hospital | N/A |
| Completed | Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease NCT01614574 | Shire | Phase 3 |
| Recruiting | Longitudinal Study of Neurodegenerative Disorders NCT03333200 | University of Pittsburgh | — |
| Completed | A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease NCT01411228 | Pfizer | Phase 3 |
| Completed | A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease NCT01422187 | Pfizer | Phase 3 |
| Completed | Clinical and Pathophysiological Investigations Into Erdheim Chester Disease NCT01417520 | National Human Genome Research Institute (NHGRI) | — |
| Completed | Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism NCT01358474 | University of Minnesota | — |
| Completed | Home Therapy With VPRIV in Gaucher's Disease NCT01356537 | Shire | — |
| Completed | A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease NCT02053896 | ISU Abxis Co., Ltd. | — |
| Completed | Exploration of Immunity in Gaucher Disease NCT01358188 | O & O Alpan LLC | — |
| Withdrawn | The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease NCT01161914 | ISU Abxis Co., Ltd. | Phase 3 |
| Unknown | Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C NCT01274208 | Shaare Zedek Medical Center | — |
| Completed | A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers NCT01881633 | ISU Abxis Co., Ltd. | Phase 1 |
| Unknown | Thrombocytopathy in Gaucher Disease Patients NCT01344096 | Rabin Medical Center | — |
| Completed | A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Diseas NCT01132690 | Pfizer | Phase 4 |
| Recruiting | Gaucher Disease Outcome Survey (GOS) NCT03291223 | Shire | — |
| Completed | A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Tw NCT01074944 | Genzyme, a Sanofi Company | Phase 3 |
| Completed | Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) NCT01136304 | University Research Foundation for Lysosomal Storage Diseases, Inc. | — |
| Completed | Auto-antibodies Prevalence and CD1 Role in Gaucher Disease NCT02650219 | Hospital St. Joseph, Marseille, France | — |
| Completed | Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease NCT01439607 | Assistance Publique - Hôpitaux de Paris | N/A |
| Completed | A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients NCT00813865 | Amicus Therapeutics | Phase 2 |
| Completed | Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase NCT00712348 | Pfizer | Phase 3 |
| Completed | A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease NCT00446550 | Amicus Therapeutics | Phase 2 |
| Completed | Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial NCT00705939 | Pfizer | Phase 3 |
| Completed | A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disea NCT00376168 | Pfizer | Phase 3 |
| Completed | Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imigluce NCT00478647 | Shire | Phase 2 / Phase 3 |
| Completed | A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gauch NCT00465062 | National Institute of Neurological Disorders and Stroke (NINDS) | — |
| Completed | A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzym NCT00433147 | Amicus Therapeutics | Phase 2 |
| Completed | Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease NCT00351156 | Amicus Therapeutics | — |
| Completed | Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations NCT00302146 | National Human Genome Research Institute (NHGRI) | — |
| Completed | Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD) NCT00258778 | Protalix | Phase 1 |
| Completed | Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX00 NCT00391625 | Shire | Phase 1 / Phase 2 |
| Completed | OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disea NCT00041535 | National Institute of Neurological Disorders and Stroke (NINDS) | Phase 2 |
| Enrolling By Invitation | Genetic Studies of Lysosomal Storage Disorders NCT00001215 | National Human Genome Research Institute (NHGRI) | — |
| Recruiting | International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry NCT00358943 | Genzyme, a Sanofi Company | — |
| No Longer Available | Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disea NCT00962260 | Pfizer | — |