Gaucher Disease Outcome Survey (GOS)

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.

Study Overview

• Status: Recruiting
• Conditions: Gaucher Disease

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 1257

Contacts and Locations

• Study Contact: Name: Shire Contact; Phone Number: +1 866 842 5335; Email: ClinicalTransparency@shire.com

Study Locations

• United States
  • Massachusetts
    • Lexington, Massachusetts, United States, 02421
      • Recruiting
      • Central Contact
      • Contact: Shire Central Contact; Email: ClinicalTransparency@shire.com
      • Principal Investigator: Central Contact

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

• Patients of any age or gender with confirmed diagnosis (biochemical and/or genetic) of Gaucher disease
• Signed and dated written informed consent from the patient or, for patients aged <18 years (<16 years in the United Kingdom [UK]), their parent and/or legally authorized representatives (LAR), and assent of the minor where applicable. Legally authorized representatives are also applicable for cognitively impaired patients.

Exclusion Criteria:

- Patients currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials)

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
GOS Participants; GOS is a disease specific registry open to all Gaucher patients irrespective of treatment status or type of treatment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Shire
• Investigators: Study Director: Shire Study Physician, Shire

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Helpful Links

• To obtain more information on the study, click here/on this link

Study record dates

Study Major Dates

• Study Start (Actual): December 29, 2010
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): September 30, 2026

Study Registration Dates

• First Submitted: August 8, 2017
• First Submitted That Met QC Criteria: September 19, 2017
• First Posted (Actual): September 25, 2017

Study Record Updates

• Last Update Posted (Actual): May 14, 2026
• Last Update Submitted That Met QC Criteria: May 11, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Gaucher Disease
• Other Study ID Numbers: GOS

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No