The international cooperative Gaucher group (ICCG) Gaucher registry

IF 2.2 4区 医学 Q3 HEMATOLOGY
Neal J. Weinreb
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引用次数: 0

Abstract

Gaucher disease GD), is a rare lysosomal storage disorder caused by deficient acid β-glucosylceramidase activity and accumulation of glucosylceramide in tissue macrophages. With the 1991 advent of alglucerase enzyme replenishment therapy (ERT), the manufacturer (Genzyme Corporation) created the ICGG Gaucher Registry to collect longitudinal observational “real word” information about GD world-wide in heterogeneous patient populations, to annotate phenotypes and genotypes that define the natural history of GD in untreated patients, and to document and analyze treatment outcomes for alglucerase and any other future treatments. For 32 years, the ICGG Gaucher Registry has functioned as an educational tool for patients, clinicians, and other stakeholders to increase scientific knowledge of GD, to provide practical management guidance, and to positively impact patient care. This paper illustrates how an industry sponsored registry guided by a company independent scientific advisory board has successfully addressed its mission and evolved in step with technologic and scientific advances.

国际合作戈歇组织(ICCG)戈歇注册
戈谢病是一种罕见的溶酶体贮积性疾病,由酸性β-葡萄糖神经酰胺酶活性不足和组织巨噬细胞中葡萄糖神经酰胺的积累引起。随着1991年醛糖酶补充疗法(ERT)的出现,制造商(Genzyme Corporation)创建了ICGG Gaucher Registry,以收集全球异质患者群体中关于GD的纵向观察“真实单词”信息,注释表型和基因型,定义未治疗患者GD的自然历史,并记录和分析醛糖酶和任何其他未来治疗的治疗结果。32年来,ICGG Gaucher Registry一直是患者、临床医生和其他利益相关者的教育工具,以增加GD的科学知识,提供实用的管理指导,并积极影响患者护理。本文阐述了一个由公司独立的科学顾问委员会指导的行业赞助的注册表是如何成功地完成其使命,并与技术和科学进步同步发展的。
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来源期刊
CiteScore
4.20
自引率
0.00%
发文量
42
审稿时长
35 days
期刊介绍: Best Practice & Research Clinical Haematology publishes review articles integrating the results from the latest original research articles into practical, evidence-based review articles. These articles seek to address the key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach which focuses on the key questions to be addressed, clearly defining what is known and not known, covering the spectrum of clinical and laboratory haematological practice and research. Although most reviews are invited, the Editor welcomes suggestions from potential authors.
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