{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T00:40:44Z","timestamp":1759538444690,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:00:00Z","timestamp":1759449600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Gaucher disease type 1 is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the GBA1 gene. Although enzyme replacement therapy has improved patient outcomes, there is limited long-term real-world data on taliglucerase alfa. This study aimed to evaluate the long-term efficacy and safety of taliglucerase alfa in both treatment-na\u00efve and previously treated patients with Gaucher disease type 1 over a 10-year period. Methods: This prospective, single-centre cohort study involved 29 patients (13 treatment-na\u00efve and 16 previously treated with imiglucerase) who received taliglucerase alfa from 2015 to 2024. Clinical, hematological, visceral, skeletal, and biochemical parameters were assessed at baseline and at 12, 60, and 120 months. Biomarkers included chitotriosidase and glucosylsphingosine. Safety was evaluated through adverse event reporting and anti-drug antibody testing. Results: Hemoglobin and platelet counts improved or remained stable in all patients. By 60 months, liver volume had normalised in treatment-na\u00efve patients (mean reduction: 23.1%), while spleen volume had decreased by up to 47.3%. Lyso-Gb1 levels decreased by 86.1% in patients who had not previously received treatment and by 59.5% overall, with a strong correlation to adherence. Bone mineral density improved in most cases. 137 adverse events were reported, 24% of which were mild infusion-related reactions. Anti-drug antibody developed in two patients, including one with a reduced therapeutic response. Conclusions: Taliglucerase alfa offers sustained long-term clinical, hematological and biochemical benefits in both treatment-na\u00efve and previously treated Gaucher disease type 1 patients, with a favorable safety profile. Glucosylsphingosine proved to be a highly sensitive biomarker for monitoring therapeutic efficacy and detecting treatment response.<\/jats:p>","DOI":"10.3390\/jcm14197015","type":"journal-article","created":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T14:18:28Z","timestamp":1759501108000},"page":"7015","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5678-9926","authenticated-orcid":false,"given":"Paskal","family":"Cullufi","sequence":"first","affiliation":[{"name":"Pediatric Department, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virtut","family":"Velmishi","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erjon","family":"Troja","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonila","family":"Tomori","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3073-0277","authenticated-orcid":false,"given":"Ermira","family":"Dervishi","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gladiola","family":"Hoxha","sequence":"additional","affiliation":[{"name":"Pediatric Department, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjeta","family":"Tanka","sequence":"additional","affiliation":[{"name":"Department of Imaging, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Polikron","family":"Pulluqi","sequence":"additional","affiliation":[{"name":"Department of Hematology, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adela","family":"Perolla","sequence":"additional","affiliation":[{"name":"Department of Hematology, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Entela","family":"Basha","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arben","family":"Ivanaj","sequence":"additional","affiliation":[{"name":"Department of Hematology, University Hospital Centre \u201cMother Teresa\u201d, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eda","family":"Jazexhiu","sequence":"additional","affiliation":[{"name":"Neonatology Department, \u201cHygeia\u201d Hospital, Tirana, Albania, University of Medicine, 1000 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8985-6785","authenticated-orcid":false,"given":"Mirela","family":"Tabaku","sequence":"additional","affiliation":[{"name":"Pediatric Department, Genetic Service, University of Medicine, 1005 Tirana, Albania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1002\/jimd.12192","article-title":"Expanding the clinical utility of glucosylsphingosine for Gaucher disease","volume":"43","author":"Saville","year":"2020","journal-title":"J. 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