{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:44:48Z","timestamp":1788173088335,"version":"build-2803163510"},"reference-count":43,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T00:00:00Z","timestamp":1718755200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Takeda Pharmaceuticals International AG. Takeda Development Center Americas, Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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 (&lt;80.0 g\/L to &gt;150 g\/L), platelet counts (&lt;50 \u00d7 109\/L to &gt;450 \u00d7 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.<\/jats:p>","DOI":"10.3390\/jcm13123588","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T08:06:06Z","timestamp":1718784366000},"page":"3588","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7092-0126","authenticated-orcid":false,"given":"Deborah","family":"Elstein","sequence":"first","affiliation":[{"name":"Takeda Pharmaceuticals International AG, 8152 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-741X","authenticated-orcid":false,"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"Assistance-Publique H\u00f4pitaux de Paris Nord, Universit\u00e9 Paris Cit\u00e9, 92110 Clichy, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Bembi","sequence":"additional","affiliation":[{"name":"Centre for Lysosomal Diseases, Academic Medical Centre Hospital of Udine, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9427-9900","authenticated-orcid":false,"given":"Patrick","family":"Deegan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Addenbrookes Hospital, University of Cambridge, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Fernandez-Sasso","sequence":"additional","affiliation":[{"name":"Instituto William Osler, Buenos Aires C1425 BRI, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8791-1901","authenticated-orcid":false,"given":"Pilar","family":"Giraldo","sequence":"additional","affiliation":[{"name":"CIBER de Enfermedades Raras, IIS Aragon, 50009 Zaragoza, Spain"},{"name":"Translational Research Unit, IIS Aragon, 50009 Zaragoza, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4758-6793","authenticated-orcid":false,"given":"\u00d6zlem","family":"G\u00f6ker-Alpan","sequence":"additional","affiliation":[{"name":"Lysosomal Disorders Unit and Center for Clinical Trials, O and O Alpan LLC, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[{"name":"Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London NW3 2QG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1690-9457","authenticated-orcid":false,"given":"Heather","family":"Lau","sequence":"additional","affiliation":[{"name":"Langone Medical Cessnter, New York University, New York, NY 10016, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Lukina","sequence":"additional","affiliation":[{"name":"Department of Orphan Diseases, National Medical Research Center for Hematology, 125167 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9151-0337","authenticated-orcid":false,"given":"Shoshana","family":"Revel-Vilk","sequence":"additional","affiliation":[{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"School of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Genetics Department, Federal University of Rio Grande do Sul (UFRGS), Medical Genetics Service\u2014Clinic Hospital of Porto Alegre, Porto Alegre 90010-150, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7598-2828","authenticated-orcid":false,"given":"Majdolen","family":"Istaiti","sequence":"additional","affiliation":[{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaco","family":"Botha","sequence":"additional","affiliation":[{"name":"Takeda Pharmaceuticals International AG, 8152 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noga","family":"Gadir","sequence":"additional","affiliation":[{"name":"Takeda Pharmaceuticals International AG, 8152 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rn","family":"Schenk","sequence":"additional","affiliation":[{"name":"Takeda Pharmaceuticals International AG, 8152 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0077-8608","authenticated-orcid":false,"given":"Ari","family":"Zimran","sequence":"additional","affiliation":[{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"School of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,19]]},"reference":[{"key":"ref_1","unstructured":"Revel-Vilk, S., Szer, J., and Zimran, A. 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