{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T02:01:41Z","timestamp":1776909701605,"version":"3.51.2"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Treatment options for Type 1 Gaucher Disease (GD1) include enzyme replacement therapy and oral substrate reduction therapy. The criteria for treatment initiation vary across regions. Recent retrospective studies have highlighted the natural progression of never\u2010treated GD1, suggesting that some patients remain asymptomatic or stable for extended periods. However, there is no data on long\u2010term prospective follow\u2010up. We conducted a prospective study following a cross\u2010sectional analysis of 36 never\u2010treated, non\u2010splenectomised GD1 patients from the French Gaucher Disease Registry (FGDR). The objective was to describe the natural disease progression, tracking clinical, radiological, and biological characteristics over time. Thirty\u2010six non\u2010splenectomised and never\u2010treated patients (19 women and 17 men) diagnosed with Gaucher Disease were prospectively followed for an additional median duration of 6.5 (5\u20138.3) years. Of the cohort, 17 remained untreated, 10 initiated treatment, and 7 were lost to follow\u2010up. Although never\u2010treated patients tended to be older at the time of first symptoms, diagnosis, and last follow\u2010up compared to those who received treatment, the difference was not significant in this small cohort. At last follow\u2010up, never\u2010treated patients had no worsening of most of their symptoms. No significant changes were observed in platelets, chitotriosidase, and lyso\u2010Gb1. In this prospective cohort, we highlight that patients with mild GD can remain untreated with no disease progression, offering insights into cost\u2010effective management strategies. Identifying such patients is still challenging.<\/jats:p>","DOI":"10.1002\/jimd.70026","type":"journal-article","created":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T08:13:23Z","timestamp":1742458403000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Never\u2010Treated, Non Splenectomised Patients With Gaucher Disease (The French\n                    <scp>GANT<\/scp>\n                    Study): The Prospective Follow\u2010Up"],"prefix":"10.1002","volume":"48","author":[{"given":"Alberto","family":"Nasce","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Diabetes, Nutrition Geneva University Hospitals  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yann","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reference Center for Lysosomal Diseases, AP\u2010HP Nord Paris Cit\u00e9 University, Beaujon Hospital  Paris France"},{"name":"Center for Epidemiology and Statistics Universit\u00e9 Paris Cit\u00e9 (CRESS), INSERM U1153  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reference Center for Lysosomal Diseases, AP\u2010HP Nord Paris Cit\u00e9 University, Beaujon Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karima","family":"Yousfi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reference Center for Lysosomal Diseases, AP\u2010HP Nord Paris Cit\u00e9 University, Beaujon Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrice","family":"Camou","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Haut L\u00e9v\u00eaque Hospital Bordeaux University Hospital  Pessac France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[{"name":"Biochemical and Molecular Biology Department Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Dalbies","sequence":"additional","affiliation":[{"name":"Institute of Cancerology and Hematology, CHRU Morvan  Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9reng\u00e8re","family":"Cador","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Pontchaillou University Hospital  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9n\u00e9dicte","family":"Hivert","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology, Hospital Saint Vincent de Paul  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Swiader","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Timone University Hospital  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Bertchansky","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Saint\u2010Eloi Hospital University Hospital  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa Leguy","family":"Seguin","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Clinical Immunology F. Mitterrand University Hospital  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wladimir","family":"Mauhin","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, La Croix Saint Simon Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Astudillo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Saint Exupery Clinic  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle Hau","family":"Rainsard","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics CHI Creteil  Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9bastien","family":"Humbert","sequence":"additional","affiliation":[{"name":"Hematology Department University Hospital of Besan\u00e7on  Besan\u00e7on 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France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9r\u00f4me","family":"Stirnemann","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Department of Medicine Geneva University Hospitals  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9940-4686","authenticated-orcid":false,"given":"Christine","family":"Serratrice","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine of the Aged Geneva University Hospitals  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Comit\u00e9 d'Evaluation et de Traitement de la maladie de Gaucher 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