{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T09:11:09Z","timestamp":1778231469778,"version":"3.51.4"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"DOI":"10.13039\/100006396","name":"Alexion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006396","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Adv Ther"],"published-print":{"date-parts":[[2026,5]]},"DOI":"10.1007\/s12325-026-03510-w","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T06:54:08Z","timestamp":1774335248000},"page":"2268-2282","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5272-4970","authenticated-orcid":false,"given":"Florence","family":"Lacaille","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Marguet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Rascon Velasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reyhan","family":"Hasanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekbel","family":"Amri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Chevrou-Severac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Abel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9rard","family":"de Pouvourville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vlad","family":"Ratziu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,24]]},"reference":[{"issue":"2","key":"3510_CR1","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1080\/14740338.2022.1993186","volume":"21","author":"F Ezg\u00fc","year":"2022","unstructured":"Ezg\u00fc F. Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency. Expert Opin Drug Saf. 2022;21(2):149\u201355. https:\/\/doi.org\/10.1080\/14740338.2022.1993186.","journal-title":"Expert Opin Drug Saf"},{"issue":"11","key":"3510_CR2","doi-asserted-by":"publisher","first-page":"2007","DOI":"10.1002\/humu.23837","volume":"40","author":"G Del Angel","year":"2019","unstructured":"Del Angel G, Hutchinson AT, Jain NK, Forbes CD, Reynders J. Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. Hum Mutat. 2019;40(11):2007\u201320. https:\/\/doi.org\/10.1002\/humu.23837.","journal-title":"Hum Mutat"},{"issue":"15-16","key":"3510_CR3","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1016\/j.cca.2012.03.019","volume":"413","author":"J Hamilton","year":"2012","unstructured":"Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413(15\u201316):1207\u201310. https:\/\/doi.org\/10.1016\/j.cca.2012.03.019.","journal-title":"Clin Chim Acta"},{"issue":"9","key":"3510_CR4","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1016\/s2468-1253(17)30052-3","volume":"2","author":"M Pericleous","year":"2017","unstructured":"Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Wolman\u2019s disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017;2(9):670\u20139. https:\/\/doi.org\/10.1016\/s2468-1253(17)30052-3.","journal-title":"Lancet Gastroenterol Hepatol"},{"key":"3510_CR5","volume-title":"GeneReviews","author":"EP Hoffman","year":"2016","unstructured":"Hoffman EP, Barr ML, Giovanni MA, Murray MF, et al. Lysosomal acid lipase deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews. Seattle: University of Washington; 2016."},{"issue":"6","key":"3510_CR6","doi-asserted-by":"publisher","first-page":"1230","DOI":"10.1016\/j.jhep.2013.02.014","volume":"58","author":"DL Bernstein","year":"2013","unstructured":"Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230\u201343. https:\/\/doi.org\/10.1016\/j.jhep.2013.02.014.","journal-title":"J Hepatol"},{"issue":"6","key":"3510_CR7","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/j.molmed.2023.03.001","volume":"29","author":"M Korbelius","year":"2023","unstructured":"Korbelius M, Kuentzel KB, Bradi\u0107 I, Vuji\u0107 N, Kratky D. Recent insights into lysosomal acid lipase deficiency. Trends Mol Med. 2023;29(6):425\u201338. https:\/\/doi.org\/10.1016\/j.molmed.2023.03.001.","journal-title":"Trends Mol Med"},{"key":"3510_CR8","unstructured":"Alexion Europe. Kanuma (sebelipase alfa) [summary of product characteristics]. Levallois-Perret, France: Alexion Europe; 2020."},{"key":"3510_CR9","unstructured":"Sebelipase alfa Medical Review. Application number 125561Orig1s000, https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/nda\/2015\/125561Orig1s000MedR.pdf. Accessed Oct 30, 2025."},{"issue":"3","key":"3510_CR10","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1002\/hep.26289","volume":"58","author":"M Balwani","year":"2013","unstructured":"Balwani M, Breen C, Enns GM, et al. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology. 2013;58(3):950\u20137. https:\/\/doi.org\/10.1002\/hep.26289.","journal-title":"Hepatology"},{"issue":"1","key":"3510_CR11","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01577-4","volume":"16","author":"S Vijay","year":"2021","unstructured":"Vijay S, Brassier A, Ghosh A, et al. Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies. Orphanet J Rare Dis. 2021;16(1):13. https:\/\/doi.org\/10.1186\/s13023-020-01577-4.","journal-title":"Orphanet J Rare Dis"},{"key":"3510_CR12","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0587-3","volume":"12","author":"SA Jones","year":"2017","unstructured":"Jones SA, Rojas-Caro S, Quinn AG, et al. Survival in infants treated with sebelipase alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis. 2017;12:25. https:\/\/doi.org\/10.1186\/s13023-017-0587-3.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"3510_CR13","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1016\/j.jhep.2014.06.022","volume":"61","author":"V Valayannopoulos","year":"2014","unstructured":"Valayannopoulos V, Malinova V, Honzik T, et al. Sebelipase alfa over 52\u00a0weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61(5):1135\u201342. https:\/\/doi.org\/10.1016\/j.jhep.2014.06.022.","journal-title":"J Hepatol"},{"issue":"3","key":"3510_CR14","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/j.jhep.2021.10.026","volume":"76","author":"BK Burton","year":"2022","unstructured":"Burton BK, Feillet F, Furuya KN, Marulkar S, Balwani M. Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: final results of the ARISE study. J Hepatol. 2022;76(3):577\u201387. https:\/\/doi.org\/10.1016\/j.jhep.2021.10.026.","journal-title":"J Hepatol"},{"issue":"11","key":"3510_CR15","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1056\/NEJMoa1501365","volume":"373","author":"B Burton","year":"2015","unstructured":"Burton B, Balwani M, Feillet F, et al. A phase\u00a03 trial of sebelipase alfa in lysosomal acid lipase deficiency. N Engl J Med. 2015;373(11):1010\u201320. https:\/\/doi.org\/10.1056\/NEJMoa1501365.","journal-title":"N Engl J Med"},{"issue":"3","key":"3510_CR16","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/j.jacl.2018.02.020","volume":"12","author":"DP Wilson","year":"2018","unstructured":"Wilson DP, Friedman M, Marulkar S, Hamby T, Bruckert E. Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency. J Clin Lipidol. 2018;12(3):604\u201314. https:\/\/doi.org\/10.1016\/j.jacl.2018.02.020.","journal-title":"J Clin Lipidol"},{"key":"3510_CR17","unstructured":"An open label multicenter extension study to evaluate the long-term safety, tolerability, and efficacy of SBC-102 in adult subjects with liver dysfunction due to lysosomal acid lipase deficiency who previously received treatment in study LAL-CL01 NCT01488097, https:\/\/cdn.clinicaltrials.gov\/large-docs\/97\/NCT01488097\/Prot_000.pdf. Accessed 30 Oct, 2025."},{"key":"3510_CR18","unstructured":"Haute Autorit\u00e9 de Sant\u00e9 KANUMA (Sebelipase alfa), https:\/\/www.has-sante.fr\/upload\/docs\/evamed\/CT-15964_KANUMA_PIC_INS_Avis3_CT15964.pdf. Accessed 30 Oct, 2025."},{"issue":"8","key":"3510_CR19","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1002\/pds.4233","volume":"26","author":"J Bezin","year":"2017","unstructured":"Bezin J, Duong M, Lassalle R, et al. The national healthcare system claims databases in France, SNIIRAM and EGB: powerful tools for pharmacoepidemiology. Pharmacoepidemiol Drug Saf. 2017;26(8):954\u201362. https:\/\/doi.org\/10.1002\/pds.4233.","journal-title":"Pharmacoepidemiol Drug Saf"},{"issue":"Suppl 4","key":"3510_CR20","doi-asserted-by":"publisher","first-page":"S149","DOI":"10.1016\/j.respe.2017.05.004","volume":"65","author":"P Tuppin","year":"2017","unstructured":"Tuppin P, Rudant J, Constantinou P, et al. Value of a national administrative database to guide public decisions: From the syst\u00e8me national d\u2019information interr\u00e9gimes de l\u2019Assurance Maladie (SNIIRAM) to the syst\u00e8me national des donn\u00e9es de sant\u00e9 (SNDS) in France. Rev Epidemiol Sante Publique. 2017;65(Suppl 4):S149-s167. https:\/\/doi.org\/10.1016\/j.respe.2017.05.004.","journal-title":"Rev Epidemiol Sante Publique"},{"issue":"5","key":"3510_CR21","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1038\/gim.2015.108","volume":"18","author":"SA Jones","year":"2016","unstructured":"Jones SA, Banikazemi M, Bialer M, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016;18(5):452\u20138. https:\/\/doi.org\/10.1038\/gim.2015.108.","journal-title":"Genet Med"},{"issue":"1","key":"3510_CR22","doi-asserted-by":"publisher","DOI":"10.3390\/ijns11010017","volume":"11","author":"MJ de Castro Lopez","year":"2025","unstructured":"de Castro Lopez MJ, White FJ, Holmes V, et al. Does early diagnosis and treatment alter the clinical course of Wolman disease? Divergent trajectories in two siblings and a consideration for newborn screening. Int J Neonatal Screen. 2025;11(1):17. https:\/\/doi.org\/10.3390\/ijns11010017.","journal-title":"Int J Neonatal Screen"},{"issue":"S1","key":"3510_CR23","first-page":"S1493","volume":"78","author":"WF Balistreri","year":"2023","unstructured":"Balistreri WF, Evans J, Abel F, D\u2019Antiga L. Correlation between age and progression of liver disease in patients with lysosomal acid lipase deficiency (LAL-D): data from the international LAL-D registry [abstract 3311-A]. Hepatology. 2023;78(S1):S1493\u20134.","journal-title":"Hepatology"},{"issue":"9","key":"3510_CR24","doi-asserted-by":"publisher","DOI":"10.1111\/liv.70279","volume":"45","author":"L D'Antiga","year":"2025","unstructured":"D\u2019Antiga L, Evans J, Ros E, et al. Sebelipase alfa improves aminotransferase levels in patients with lysosomal acid lipase deficiency: data from an international registry. Liver Int. 2025;45(9):e70279.","journal-title":"Liver Int"},{"issue":"3","key":"3510_CR25","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1007\/s40256-017-0216-5","volume":"17","author":"JJ Maciejko","year":"2017","unstructured":"Maciejko JJ. Managing cardiovascular risk in lysosomal acid lipase deficiency. Am J Cardiovasc Drugs. 2017;17(3):217\u201331. https:\/\/doi.org\/10.1007\/s40256-017-0216-5.","journal-title":"Am J Cardiovasc Drugs"},{"issue":"1","key":"3510_CR26","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.jped.2021.03.003","volume":"98","author":"CDR Witeck","year":"2022","unstructured":"Witeck CDR, Schmitz AC, de Oliveira JMD, Porporatti AL, De Luca Canto G, Pires MMS. Lysosomal acid lipase deficiency in pediatric patients: a scoping review. J Pediatr (Rio J). 2022;98(1):4\u201314. https:\/\/doi.org\/10.1016\/j.jped.2021.03.003.","journal-title":"J Pediatr (Rio J)"},{"issue":"7","key":"3510_CR27","doi-asserted-by":"publisher","first-page":"1537","DOI":"10.1111\/liv.15620","volume":"43","author":"M Balwani","year":"2023","unstructured":"Balwani M, Balistreri W, D\u2019Antiga L, et al. Lysosomal acid lipase deficiency manifestations in children and adults: baseline data from an international registry. Liver Int. 2023;43(7):1537\u201347. https:\/\/doi.org\/10.1111\/liv.15620.","journal-title":"Liver Int"}],"container-title":["Advances in Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-026-03510-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12325-026-03510-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-026-03510-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T08:37:59Z","timestamp":1778229479000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12325-026-03510-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,24]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["3510"],"URL":"https:\/\/doi.org\/10.1007\/s12325-026-03510-w","relation":{},"ISSN":["0741-238X","1865-8652"],"issn-type":[{"value":"0741-238X","type":"print"},{"value":"1865-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,24]]},"assertion":[{"value":"6 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Florence Lacaille, Vlad Ratziu, and G\u00e9rard de Pouvourville received consultancy fees from Alexion, AstraZeneca Rare Disease. Fran\u00e7ois Feillet reported receiving a grant from Recordati to support a PhD thesis, consultancy fees from Jana Therapeutics, PTC Therapeutics, Vitaflo, Danone, and Alexion, AstraZeneca Rare Disease, honoraria for lectures, manuscript writing, or educational events from Recordati and Alexion, AstraZeneca Rare Disease, and support for attending meetings and advisory board participation from PTC Therapeutics. Ekbel Amri and\u00a0Florian Abel (FA) are employees of Alexion, AstraZeneca\u00a0and may hold stock or stock options in AstraZeneca. Hel\u00e8ne Chevrou-Severac was an\u00a0employee at Alexion, AstraZeneca Rare Disease during project and manuscript development. Sophie Marguet, Vanessa Rascon Velasco, and Reyhan Hasanova are employees of Oracle France, which received fees from Alexion, AstraZeneca Rare Disease to conduct the analysis and develop the\u00a0manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Our study involved anonymized structured data that does not include any personally identifiable information and, as such, it is not governed by privacy laws requiring individual patient consent, in accordance with relevant regulatory standards. Permission was obtained from the database owners to access and use the SNDS database for this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}