Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review
Abstract
:1. Introduction
2. Methods
2.1. Literature Searches
2.2. Study Selection
3. Results
3.1. Search Outputs
3.2. GD Incidence
3.2.1. Europe
3.2.2. North America
3.2.3. Asia-Pacific
3.3. GD Prevalence
3.3.1. Europe
3.3.2. North America
4. Discussion
Limitations
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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A. Stage 1 Screening: Study Inclusion and Exclusion Criteria | |
---|---|
Inclusion Criteria | Exclusion Criteria |
Studies conducted in humans | Case reports, letters to editors, editorials, opinions |
Observational studies (e.g., cross-sectional, cohort, case–control, registries, case series *) | Literature reviews (systematic and non-systematic) and meta-analyses (used as reference source only) |
Studies that included patients with GD (either as the study population or as a subgroup analysis) | Clinical trials, non-clinical or experimental (preclinical) studies |
Studies that reported incidence and/or prevalence estimates | Studies reporting preliminary results (if later published as full text) |
Studies published as full text, conference proceedings, or abstracts | |
Studies published between 1 January 2011 and 6 May 2021 (date last searched) † | |
Search was in English but outputs in French, Spanish, German, or Italian only were also considered when necessary | |
B. Stage 2 Screening Criteria. | |
Criteria (based on PICOTS) | Details |
Population | Patients with GD of any type |
Intervention | Receiving standard of care (including substrate replacement therapy and enzyme replacement therapy) |
Outcomes | GD incidence and prevalence outcomes or data from which these could be derived |
Time period | Published within the past 10 years: 1 January 2011 to 6 May 2021 |
Setting | Real-world/observational studies |
Assessment Criteria | Description |
---|---|
GD type | The availability of estimates for: GD overall (any GD or combining estimates where GD type was specified) GD unspecified (absence of any information on whether study targeted GD overall or a given GD type) GD type-specific (GD type 1–3 specific) |
Number of regions collectively covered across studies | The availability of estimates for each region (North America, Europe, Asia-Pacific, Latin America, Middle East, and Africa) was determined |
Countries covered | Listed countries were based on an assessment of the number and population size of countries per region: Asia-Pacific: If either China or India were covered, then the generalizability was considered as adequate Europe: If available studies collectively covered at least 4 countries among France, Germany, Italy, Spain, UK, then the findings were considered to have adequate generalizability. If only 2 or 3 of these countries were covered then generalizability was considered intermediate, and 0–1 was considered poor generalizability North America (includes the USA and Canada) *: If estimates were only available for either the USA or Canada, generalizability was deemed intermediate, otherwise, if both were covered both, then it was considered adequate Latin America: If available studies collectively covered at least 3 countries among Argentina, Brazil, Colombia, and Mexico, then the findings were considered to have adequate generalizability. If only 2 of the above-listed countries were covered, generalizability was considered intermediate, and 0–1 was considered poor Middle East: Generalizability was considered adequate if at least 3 countries among Egypt, Iran, Jordan, or Turkey were included, intermediate if 2 out of the 4 listed countries were included, and poor for 0 or 1 out of 4 countries Africa: Generalizability was considered adequate if at least 3 of the following countries were covered: Algeria or Morocco; South Africa; or any country from sub-Saharan Africa. If only some of those countries were covered then the generalizability was considered intermediate (2 out of 3 countries) or poor (0 or 1 out of 3) |
Size of study population | Within a country or region, the size of the studies (collective or individual) was also considered. For guidance purposes, studies with a sample size >200 patients with GD were considered arbitrarily to be large |
Study Design | Study Period | Study Duration, Months | Study Population Size | Reference Population | Incidence Rate (Confirmed Cases/Screened Pts) | |
---|---|---|---|---|---|---|
France | ||||||
Stirnemann et al. 2016 [37] | Retrospective cohort | 1980–2015 | - | 616 | Live births in corresponding years | GD (overall) 2.0/100,000 live births |
Sweden | ||||||
Hult et al. 2014 [36] | Retrospective cohort | 1990–2009 | 360 | 44/2,080,791 | Live births in corresponding years | GD (unspecified) 2.13/100,000 live births |
Italy | ||||||
Burlina et al. 2018 [23] | Prospective cohort | Sep 2015–Jan 2017 | 17 | 2/44,411 | Population-based newborn screening program in North-East Italy | GD1: 4.50/100,000 live births |
Polo et al. 2020 [32] | Prospective cohort | Sep 2015–Aug 2019 | - | 2/127,869 | Population-based newborn screening program | GD (unspecified): 7.82/100,000 live births |
Austria | ||||||
Mechtler et al. 2012 [31] | Prospective cohort | Jan 2010–Jul 2010 | 7 | 2/34,736 | Population-based newborn screening program | GD (unspecified): 5.76/100,000 live births |
Hungary | ||||||
Wittmann et al. 2012 [34] | Prospective cohort | 2012 * | - | 3/40,024 | Population-based newborn screening program | GD (unspecified): 7.5/100,000 live births |
Spain | ||||||
SEHH 2020 [38] | Newsletter from the Spanish registry of GD | 2020 * | - | NA | Population of Spain in 2019 | GD (unspecified): 8–10 new cases/year |
USA | Study Design | Study Period | Study Duration, Months | Study Population Size | Reference Population | Incidence Rate (Confirmed Cases/Screened Pts) |
---|---|---|---|---|---|---|
Hopkins et al. 2017 [27] | Prospective cohort | 2017 * | - | 4/282,500 | Missouri pilot newborn screening program | GD (unspecified) 1.42/100,000 live births |
Burton et al. 2016 [35] | Prospective cohort | 2016 * | - | 1/63,007 | Illinois newborn screening program | GD1: 1.59/100,000 live births |
Hopkins et al. 2015 [28] | Prospective cohort | Jan 2013–Jun 2013 | 6 | 1/43,701 | Missouri newborn screening program | GD (unspecified) 2.29/100,000 live births |
Burton et al. 2017 [25] | Prospective cohort | Nov 2014–Aug 2016 | - | 5/219,793 | Illinois Department of Public Health in Chicago newborn screening program | GD (unspecified): 2.27/100,000 live births GD1: 0.45/100,000 live births (1/219,793) |
Wasserstein et al. 2019 [33] | Prospective cohort | May 2013–Apr 2017 | 48 | 15/65,605 | New York pilot newborn screening program | GD1: 22.9/100,000 live births † |
Burton et al. 2012 [24] | Prospective cohort | Nov 2010–Apr 2011 | 6 | 2/8012 | Illinois pilot newborn screening program | GD (unspecified): 25.0/100,000 live births |
Limgala et al. 2020 [30] | Prospective cohort | 2020 * | - | 1/5000 | Patients (all ages) seeking healthcare for various health concerns: 85% African American 10% Hispanic 5% Caucasian/other | GD (unspecified): 20.0/100,000 healthcare-seeking patients |
Study Design | Study Period | Study Duration, Months | Study Population Size | Reference Population | Incidence Rate (Confirmed Cases/Screened Pts) | |
---|---|---|---|---|---|---|
China | ||||||
Kang et al. 2017 [29] | Prospective cohort | 2017 * | 12 | 1/80,855 | Newborns participating in the Neonatal Screening Center of Shanghai | GD (unspecified) 1.24/100,000 live births |
Taiwan | ||||||
Chien et al. 2020 [26] | Prospective cohort | Mar 2018–Apr 2019 | 12 | 1/73,743 | 35% of newborns in Taiwan | GD3: 1.36/100,000 live births |
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Castillon, G.; Chang, S.-C.; Moride, Y. Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review. J. Clin. Med. 2023, 12, 85. https://doi.org/10.3390/jcm12010085
Castillon G, Chang S-C, Moride Y. Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review. Journal of Clinical Medicine. 2023; 12(1):85. https://doi.org/10.3390/jcm12010085
Chicago/Turabian StyleCastillon, Genaro, Shun-Chiao Chang, and Yola Moride. 2023. "Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review" Journal of Clinical Medicine 12, no. 1: 85. https://doi.org/10.3390/jcm12010085