Peer reviewed: TrueAcknowledgements: The authors would like to thank Zoya Panahloo (previously of Takeda, Zug, Switzerland) and Dalia Jazukeviciene (Takeda, Zurich, Switzerland) for their contributions to the operation of the Gaucher Outcome Survey, and to Aidan Gill (previously of Takeda, Zurich, Switzerland) for his contribution to the conceptualization, methodology, and interpretation of data for the manuscript. Under the direction of the authors, Lindsay Napier and Vardit Dror, employees of Excel Scientific Solutions, provided writing assistance for this publication. Editorial assistance in formatting, proofreading, copy editing, and fact-checking was also provided by Excel Scientific Solutions.Publication status: PublishedFunder: Takeda Pharmaceuticals International AG. Takeda Development Center Americas, Inc.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 (150 g/L), platelet counts (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
