Gaucher Disease Outcome Survey (GOS)

NCT03291223 | Recruiting

• 1 other identifier: GOS
• Study Type: observational
• Target: 1,257
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (7)

• 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

Study Arms (1)

GOS Participants

GOS is a disease specific registry open to all Gaucher patients irrespective of treatment status or type of treatment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Shire: lead

Study Sites (1)

Central Contact

Lexington, Massachusetts, 02421, United States

RECRUITING

Related Publications (3)

• 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.

  PMID: 41527340 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.

  PMID: 40155993 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.

  PMID: 38930117 DERIVED

Related Links

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

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Shire Study Physician

  Shire

  STUDY DIRECTOR

Central Study Contacts

Shire Contact

CONTACT

+1 866 842 5335; ClinicalTransparency@shire.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 6 Months
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 8, 2017
• First Posted: September 25, 2017
• Study Start: July 27, 2010
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): September 30, 2026
• Last Updated: October 9, 2025

Record last verified: 2025-10

Locations

US (1)