{"title":"The international cooperative Gaucher group (ICCG) Gaucher registry","authors":"Neal J. Weinreb","doi":"10.1016/j.beha.2023.101522","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":null,"pages":null},"PeriodicalIF":2.2000,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best Practice & Research Clinical Haematology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S152169262300083X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
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.
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.