Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Feb;93(2):205-212.
doi: 10.1002/ajh.24957. Epub 2017 Dec 12.

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

Ari Zimran  1 , Nadia Belmatoug  2 , Bruno Bembi  3 , Patrick Deegan  4 , Deborah Elstein  5 , Diego Fernandez-Sasso  6 , Pilar Giraldo  7   8   9   10 , Ozlem Goker-Alpan  11 , Heather Lau  12 , Elena Lukina  13 , Zoya Panahloo  5 , Ida Vanessa D Schwartz  14   15 ; GOS Study group
Affiliations

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

Ari Zimran et al. Am J Hematol. 2018 Feb.

Abstract

The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long-term effectiveness of velaglucerase alfa and other GD-related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S/N370S was the most prevalent genotype, accounting for 44.2% of genotype-confirmed individuals (n = 847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received ≥1 GD-specific treatment at any time, most commonly imiglucerase (n = 587), velaglucerase alfa (n = 507), and alglucerase (n = 102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Treatment status of patients enrolled in GOS as of February 25, 2017 (N = 1209). Treated at any time: patients who had one or more records of a GD‐specific treatment and a treatment start date specified. Untreated: patients for whom there was a recorded indication of not having received GD‐specific treatment and no indication of GD‐specific treatment at any time. Missing information: patients who were missing information on treatment status or treatment start date. GD, Gaucher disease; GOS, Gaucher Outcome Survey
See this image and copyright information in PMC

References

    1. Zimran A, Elstein D, Gaucher disease and related lysosomal storage diseases In: Kaushansky K, Lichtman M, Prchal J, et al., eds. Williams Hematology. 9th ed New York, NY: McGraw‐Hill; 2016.
    1. Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab. 2004;83(1–2):6–15. - PubMed
    1. Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65–73. - PubMed
    1. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency–macrophage‐targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991;324(21):1464–1470. - PubMed
    1. Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose‐terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122(1):33–39. - PubMed

Publication types