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The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received. No experimental intervention is involved. Patients undergo clinical assessments and receive care as determined by the patients' treating physician.
The objectives of the registry include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice.
20 MAY 2020: The temporary enrollment stop of new patients into this study due to the COVID-10 pandemic has been lifted in one or more countries/sites, and the study is now again enrolling new patients. However, some countries/sites may still have paused the enrollment of new patients due to the pandemic.
24 APRIL 2020: Enrollment of new patients into this study has been paused due to the COVID-19 situation. The duration of this pause is dependent on the leveling and control of the COVID-19 pandemic.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| GOS Participants | GOS is a disease specific registry open to all Gaucher patients irrespective of treatment status or type of treatment |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants With Treatment-emergent Adverse Events (AEs) and Serious Adverse Events (SAEs) | Treatment-emergent adverse events (TEAEs) are defined as adverse events (AEs) that either commenced or worsened following the first dose of VPRIV. | Baseline to one year for up to 20 years |
| Number of Participants With Infusion-related Reactions (IRRs) | An IRR is defined as an AE that has been assessed as at least possibly related to treatment with VPRIV and occurs during an infusion or up to 24 hours post-VPRIV infusion. | Baseline to one year for up to 20 years |
| Increase of Hemoglobin Concentration | Hemoglobin concentration will be assessed. | Baseline to one year for up to 20 years |
| Increase of Platelet Count | Platelet count will be assessed. | Baseline to one year for up to 20 years |
| Decrease in Liver Volume | Liver volume will be assessed by abdominal imaging. | Baseline to one year for up to 20 years |
| Decrease in Spleen Volume | Spleen volume will be assessed by abdominal imaging. | Baseline to one year for up to 20 years |
| Increase in Bone Mineral Density (BMD) | Bone mineral density will be assessed. | Baseline to one year for up to 20 years |
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Inclusion Criteria:
Exclusion Criteria:
- Patients currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials)
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GOS is a disease specific registry irrespective of treatment or treatment status, open to all patients of any age or sex with Gaucher disease of any type. Patients included may be those who are untreated, naive to therapy, individuals who are currently or have been previously treated with velaglucerase alfa (VPRIV), or individuals who have been receiving or are currently exposed to other treatments for Gaucher disease. There is no predefined sample size.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Shire Contact | Contact | +1 866 842 5335 | ClinicalTransparency@shire.com |
| Name | Affiliation | Role |
|---|---|---|
| Shire Study Physician | Shire | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Central Contact | Recruiting | Lexington | Massachusetts | 02421 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41527340 | Derived | Ain NU, Vaishnaw M, Mistry PK. Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. J Inherit Metab Dis. 2026 Jan;49(1):e70128. doi: 10.1002/jimd.70128. | |
| 40155993 | Derived | Revel-Vilk S, Ramaswami U, Pintos-Morell G, Hughes D, Nicholls K, Reisin R, Giugliani R, Goker-Alpan O, Istaiti M, Gill A, Scarpa M, Botha J. Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys. Orphanet J Rare Dis. 2025 Mar 28;20(1):145. doi: 10.1186/s13023-024-03416-2. |
| Label | URL |
|---|---|
| To obtain more information on the study, click here/on this link | View source |
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| ID | Term |
|---|---|
| D005776 | Gaucher Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| 38930117 | Derived | Elstein D, Belmatoug N, Bembi B, Deegan P, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Hughes D, Lau H, Lukina E, Revel-Vilk S, Schwartz IVD, Istaiti M, Botha J, Gadir N, Schenk J, Zimran A; GOS Study Group. Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry. J Clin Med. 2024 Jun 19;13(12):3588. doi: 10.3390/jcm13123588. |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |