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. 2024 Jun 19;13(12):3588.
doi: 10.3390/jcm13123588.

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Deborah Elstein  1 , Nadia Belmatoug  2 , Bruno Bembi  3 , Patrick Deegan  4 , Diego Fernandez-Sasso  5 , Pilar Giraldo  6   7 , Özlem Göker-Alpan  8 , Derralynn Hughes  9 , Heather Lau  10 , Elena Lukina  11 , Shoshana Revel-Vilk  12   13 , Ida Vanessa D Schwartz  14 , Majdolen Istaiti  12 , Jaco Botha  1 , Noga Gadir  1 , Jörn Schenk  1 , Ari Zimran  12   13 ; GOS Study Group
Affiliations

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Deborah Elstein et al. J Clin Med. .

Abstract

Background: Long-term patient registries are important for evaluating treatment outcomes in patients with rare diseases, and can provide insights into natural disease history and progression in real-world clinical practice. Initiated in 2010, the Gaucher Outcome Survey (GOS) is an ongoing, international, multicenter, observational registry (ClinicalTrials.gov Identifier: NCT03291223) for patients with a diagnosis of Gaucher disease (GD), irrespective of treatment type or status, with a primary objective to monitor safety and long-term effectiveness of velaglucerase alfa. Methods: Here, we evaluated the GOS population 12 years after the registry initiation. Results: As of 25 February 2023, 2084 patients enrolled in the GOS and 1643 received GD-specific treatment. Patients exhibited broad heterogeneity at baseline: age of diagnosis (0 to 85.3 years), hemoglobin concentrations (<80.0 g/L to >150 g/L), platelet counts (<50 × 109/L to >450 × 109/L), and liver and spleen volumes. Most patients treated with enzyme replacement therapy or substrate reduction therapy reported improvements in clinical parameters within 1 year of treatment initiation, maintained over the course of treatment up to 12 years, whereas untreated patients had baseline values closer to standard reference thresholds and showed stability over time. Conclusion: The 12-year data from the GOS confirm the impact of long-term treatment with GD-specific agents and offer insights into disease progression and outcomes in a real-world setting.

Keywords: ERT; GOS; Gaucher disease; enzyme replacement therapy; registry; velaglucerase alfa.

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Conflict of interest statement

D.E. was a paid consultant for Takeda at the time the study was conducted. N.B. receives financial compensation for speaking, travel grants, and scientific boards from Sanofi/Genzyme and Takeda; her institution received research grants from Sanofi/Genzyme and Takeda. B.B., D.F.S., I.V.D.S. and M.I. declare no conflicts of interest. P.D. received speaker honoraria and institutional research support from Takeda. P. Giraldo receives financial compensation for presentations, advisory boards, and research projects from Pfizer, Sanofi Genzyme, and Takeda; the financial contributions are destined to research in Gaucher disease and other lysosomal diseases through the FEETEG. Ö.G.A. acts as a consultant and has received speaker honoraria from Pfizer and Takeda. D.H. has received consulting fees and fees for non-CME/CE services from Genzyme, Sanofi, and Takeda. H.L. has received consulting fees from Actelion, Pfizer, Sanofi Genzyme, and Takeda, and research grants from Amicus, BioMarin, Pfizer, Protalix, Sangamo, Sanofi Genzyme, Takeda, and Ultragenyx. H.L. is currently an employee of Ultragenyx. E.L. has received honoraria and travel reimbursement from Sanofi Genzyme and Shire (now Takeda). S.R.V. reports that the Shaare Zedek Medical Center Gaucher Unit receives support from Sanofi/Genzyme for participation in the International Collaborative Gaucher Group Registry, from Takeda for the GOS Registry, and from Pfizer for Taliglucerase Alfa Surveillance. The Shaare Zedek Medical Center Gaucher Unit also receives research grants from Centogene, Pfizer, Sanofi/Genzyme, and Takeda. S.R.V. receives grant/research support, honoraria, and advisory fees from Pfizer, Sanofi/Genzyme, and Takeda. J.B., N.G. and J.S. are employees of Takeda and stockholders of Takeda Pharmaceutical Company Ltd. A.Z. received honoraria from BioEvents, ISU, Pfizer, and Takeda.

Figures

Figure 1
Figure 1
Proportion of patients with dose change or discontinued treatment.
Figure 2
Figure 2
Medical history. Abdomen category includes liver and spleen volume; hematology category includes hemoglobin concentrations and platelet counts (Table S2). GI, gastrointestinal; GU, genitourinary.
Figure 3
Figure 3
Clinical parameters and biomarkers over time. (a) Hemoglobin concentrations and (b) platelet counts at baseline, 1 year, and 10 years for treated, untreated, and splenectomized-treated patients. (c) Liver volume and (d) spleen volume at baseline, 1 year, and 10 years for treated and untreated patients assessed using 3D ultrasound and MRI/CT. (e) Chitotriosidase and (f) lyso-Gb1 biomarkers at baseline, 1 year, and 10 years for treated and untreated patients. Baseline is defined as the date of treatment initiation for treated patients and the date of GOS entry for untreated patients. The numbers inside the bars indicate the number of patients analyzed. The numbers above the bars are the means.
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