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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.
摘要：
背景：长期患者登记对于评估罕见疾病患者的治疗结果非常重要，并且可以在现实世界的临床实践中提供对自然疾病史和进展的见解。Gaucher成果调查(GOS)始于2010年，目前正在进行中，国际,多中心，诊断为戈谢病（GD）的患者的观察性注册表（ClinicalTrials.gov标识符：NCT03291223），无论治疗类型或状态如何，主要目标是监测天鹅胶的安全性和长期有效性。方法:这里,我们在注册开始12年后对GOS人群进行了评估.结果：截至2023年2月25日，2084例GOS患者和1643例接受GD特异性治疗。患者在基线时表现出广泛的异质性：诊断年龄（0至85.3岁），血红蛋白浓度（<80.0g/L至>150g/L），血小板计数（<50×109/L至>450×109/L），肝脏和脾脏的体积。大多数接受酶替代疗法或底物减少疗法治疗的患者在治疗开始后1年内报告了临床参数的改善。在治疗过程中保持长达12年，而未经治疗的患者的基线值更接近标准参考阈值，并且随着时间的推移表现出稳定性。结论：来自GOS的12年数据证实了GD特异性药物长期治疗的影响，并提供了在现实世界中对疾病进展和结果的见解。
