Gaucher disease
Information
- Disease name
- Gaucher disease
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| UROS | 10 | 125,788,586 | 125,816,510 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05529992 | Active, not recruiting | Phase 3 | A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease | January 3, 2023 | August 25, 2024 |
| NCT05526664 | Active, not recruiting | Omics Gaucher Study: Multiomic Approach | October 6, 2022 | December 2024 | |
| NCT05702814 | Active, not recruiting | A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition | March 27, 2023 | May 31, 2024 | |
| NCT00302146 | Completed | Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations | May 23, 2006 | ||
| NCT00351156 | Completed | Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease | July 2006 | March 2007 | |
| NCT06211478 | Completed | Phase 3 | Role of Vitamin E in Gaucher Disease Patients | March 3, 2023 | October 5, 2023 |
| NCT00376168 | Completed | Phase 3 | A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease | August 2007 | October 2009 |
| NCT00391625 | Completed | Phase 1/Phase 2 | Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) | September 13, 2004 | January 31, 2008 |
| NCT00433147 | Completed | Phase 2 | A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy | March 23, 2007 | February 19, 2008 |
| NCT00446550 | Completed | Phase 2 | A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease | June 11, 2008 | August 20, 2009 |
| NCT00465062 | Completed | A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease | April 19, 2007 | March 3, 2008 | |
| NCT00478647 | Completed | Phase 2/Phase 3 | Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase | July 25, 2007 | June 26, 2009 |
| NCT00705939 | Completed | Phase 3 | Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial | June 2008 | August 2013 |
| NCT00712348 | Completed | Phase 3 | Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase | December 2008 | May 2013 |
| NCT00813865 | Completed | Phase 2 | A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients | May 11, 2009 | May 1, 2012 |
| NCT01074944 | Completed | Phase 3 | A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) | June 2010 | October 2015 |
| NCT01132690 | Completed | Phase 4 | A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease | August 2010 | July 2012 |
| NCT01136304 | Completed | Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) | April 2010 | December 2013 | |
| NCT04997772 | Completed | Digital Health Platform Customized for Patients With Gaucher Disease | February 1, 2022 | March 30, 2024 | |
| NCT01356537 | Completed | Home Therapy With VPRIV in Gaucher's Disease | May 20, 2011 | September 30, 2017 | |
| NCT01358188 | Completed | Exploration of Immunity in Gaucher Disease | April 2011 | May 2, 2016 | |
| NCT01358474 | Completed | Detecting Dopaminergic Deficits in Individuals At-risk for Parkinsonism | July 2011 | December 2018 | |
| NCT01411228 | Completed | Phase 3 | A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease | September 2011 | August 2014 |
| NCT01417520 | Completed | Clinical and Pathophysiological Investigations Into Erdheim Chester Disease | August 1, 2011 | July 24, 2019 | |
| NCT01422187 | Completed | Phase 3 | A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease | August 2011 | September 2014 |
| NCT01439607 | Completed | N/A | Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease | December 2009 | March 2012 |
| NCT01614574 | Completed | Phase 3 | Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease | March 2, 2012 | May 25, 2013 |
| NCT04787887 | Completed | Phase 1 | A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers | January 29, 2020 | October 26, 2020 |
| NCT01747980 | Completed | Phase 1 | Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients | March 2013 | March 2014 |
| NCT01842841 | Completed | Phase 3 | Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease | March 13, 2013 | October 8, 2014 |
| NCT01881633 | Completed | Phase 1 | A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers | October 2010 | November 2010 |
| NCT04721366 | Completed | A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease | January 8, 2021 | April 17, 2023 | |
| NCT02053896 | Completed | A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease | May 2011 | February 2012 | |
| NCT02107846 | Completed | Phase 2 | An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 | April 2014 | December 2015 |
| NCT04718779 | Completed | Phase 4 | A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy | April 22, 2021 | February 16, 2023 |
| NCT02416661 | Completed | Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease | August 27, 2018 | January 15, 2021 | |
| NCT02422654 | Completed | Phase 1 | Taste Evaluation of Different Liquid Formulations With Eliglustat | April 2015 | May 2015 |
| NCT04430881 | Completed | A National Study in Patients With Unexplained Splenomegaly | September 2015 | April 27, 2021 | |
| NCT02536755 | Completed | Phase 3 | Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies | October 27, 2015 | June 24, 2021 |
| NCT02536911 | Completed | Phase 1 | A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate | September 2015 | December 2016 |
| NCT02536937 | Completed | Phase 1 | A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate | September 2015 | January 2017 |
| NCT02574286 | Completed | Phase 4 | Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease | June 29, 2016 | November 30, 2020 |
| NCT04429984 | Completed | Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India | July 28, 2021 | April 22, 2023 | |
| NCT02650219 | Completed | Auto-antibodies Prevalence and CD1 Role in Gaucher Disease | January 2010 | December 2015 | |
| NCT02785744 | Completed | Genzyme Osteopenia/Osteoporosis Study | April 1, 2016 | September 1, 2019 | |
| NCT03625882 | Completed | Survey Study for Velaglucerase Alfa (VPRIV) in Japan | September 12, 2014 | May 14, 2024 | |
| NCT04050137 | Completed | N/A | Therapeutic Exercise to Treat Neuropathic Pain | May 2, 2019 | December 14, 2020 |
| NCT00041535 | Completed | Phase 2 | OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease | July 5, 2002 | March 21, 2007 |
| NCT00258778 | Completed | Phase 1 | Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD) | November 2005 | January 2006 |
| NCT00001215 | Enrolling by invitation | Genetic Studies of Lysosomal Storage Disorders | March 8, 1995 | ||
| NCT05368038 | Enrolling by invitation | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | May 10, 2021 | July 31, 2026 | |
| NCT00962260 | No longer available | Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease | |||
| NCT05669729 | Not yet recruiting | A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion | March 3, 2025 | September 30, 2026 | |
| NCT06258577 | Not yet recruiting | Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency | May 1, 2024 | December 31, 2028 | |
| NCT05816993 | Not yet recruiting | Assessment of Neurological Manifestations in Gaucher Disease Patients | April 20, 2023 | April 11, 2025 | |
| NCT05843552 | Recruiting | Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease | April 30, 2023 | May 2025 | |
| NCT05908656 | Recruiting | N/A | Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight) | April 2, 2024 | July 23, 2024 |
| NCT05992532 | Recruiting | GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma | May 30, 2023 | March 2026 | |
| NCT06116071 | Recruiting | Biomarkers Related to Bone in Pediatric Gaucher Disease | November 25, 2023 | December 31, 2025 | |
| NCT03291223 | Recruiting | Gaucher Disease Outcome Survey (GOS) | July 27, 2010 | January 3, 2025 | |
| NCT03190837 | Recruiting | A Long-term Follow-up Study of Gaucher Disease | June 12, 2017 | January 2027 | |
| NCT05487599 | Recruiting | Phase 1/Phase 2 | A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) | December 20, 2022 | October 2, 2030 |
| NCT00358943 | Recruiting | International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry | April 1, 1991 | January 31, 2034 | |
| NCT05536388 | Recruiting | Drug Discovery for Parkinson's With Mutations in the GBA Gene | July 15, 2022 | July 15, 2025 | |
| NCT05641103 | Recruiting | PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" | March 21, 2023 | December 31, 2025 | |
| NCT04101968 | Recruiting | The GBA Multimodal Study in Parkinson's Disease | May 1, 2019 | April 30, 2024 | |
| NCT03333200 | Recruiting | Longitudinal Study of Neurodegenerative Disorders | January 11, 2012 | January 2035 | |
| NCT04388969 | Recruiting | World Data on Ambroxol for Patients With GD and GBA Related PD | May 6, 2020 | January 31, 2024 | |
| NCT04094181 | Terminated | A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction Therapies | September 19, 2019 | November 17, 2021 | |
| NCT03896607 | Terminated | Liver and the Spleen Stifness in Adult Patients With Gaucher's Disease Using Ultrasound Shear Wave Elastography | March 30, 2019 | October 31, 2022 | |
| NCT04145037 | Terminated | Phase 1/Phase 2 | Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease | May 30, 2019 | August 21, 2023 |
| NCT01716741 | Unknown status | N/A | Identification of Undiagnosed Gaucher Disease | August 2012 | |
| NCT03721627 | Unknown status | Phase 4 | Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. | April 3, 2018 | October 2019 |
| NCT03811496 | Unknown status | Biomarker Analysis for GBA Associated Parkinson's Disease | February 1, 2018 | July 2020 | |
| NCT02605603 | Unknown status | SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease | May 2015 | May 2020 | |
| NCT02520934 | Unknown status | N/A | Miglustat on Gaucher Disease Type IIIB | July 2015 | December 2019 |
| NCT02120235 | Unknown status | Investigating Lysosomal Storage Diseases in Minority Groups | February 2014 | December 2018 | |
| NCT01951989 | Unknown status | Phase 2 | Intra-monocyte Imiglucerase Kinetics in Gaucher Disease | November 2012 | June 2016 |
| NCT04758130 | Unknown status | N/A | Getting Global Rare Disease Insights Through Technology Study | August 7, 2020 | November 30, 2021 |
| NCT03590548 | Unknown status | Clinical Audit of Managment of Gausher Disease in Children | July 2018 | July 2019 | |
| NCT01344096 | Unknown status | Thrombocytopathy in Gaucher Disease Patients | October 2010 | November 2018 | |
| NCT01274208 | Unknown status | Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C | January 2011 | April 2016 | |
| NCT01161914 | Withdrawn | Phase 3 | The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease | January 2011 | |
| NCT04189601 | Withdrawn | Complement Activation in the Lysosomal Storage Disorders | September 30, 2020 | April 30, 2021 |
- OrphaNumber from OrphaNet (Orphanet)
- 355
- MeSH unique ID (MeSH (Medical Subject Headings))
- D005776