{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T11:09:12Z","timestamp":1785150552288,"version":"3.55.0"},"reference-count":30,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T00:00:00Z","timestamp":1768176000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disease with heterogeneous clinical manifestations. Evidence on the disease burden of ASMD is limited in Brazil. Methods: This observational, multicenter, retrospective study assessed the characteristics and clinical data of patients with ASMD type B and type A\/B. Patients\u2019 demographic data were retrieved from Hospital de Cl\u00ednicas de Porto Alegre between January 1, 1986 and May 31, 2021, and available medical records were collected from eight centers in Brazil. Results: The study included 124 patients (full cohort: ASMD type B [75.8%] and type A\/B [24.2%]; median [interquartile range {IQR}] age: 10.0 [3.6\u201319.9] years at diagnosis, n = 94), while medical records were available for 24 patients (subset cohort: ASMD type B [87.5%] and type A\/B [12.5%]; median [IQR] age: 6.7 [1.9\u201311.3] years at diagnosis). Hepatobiliary and splenic manifestations were the most common clinical findings at symptom onset\/diagnosis (75.0% and 70.8%, respectively) and at the last follow-up\/death (83.3% each), with the majority of patients showing abnormal liver function parameters at both time points. At least 50.0% of patients had comorbidities at symptom onset or diagnosis. The incidence of hospitalization was reported in 33.3% patients at symptom onset\/diagnosis and in 45.9% at the last follow-up\/death. During the follow-up period, two patients with ASMD type A\/B died in the subset cohort. Conclusions: The study provides insights into the high burden of illness in patients with ASMD, highlighting the need for disease awareness and early diagnosis in Brazil.<\/jats:p>","DOI":"10.3390\/jcm15020589","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T08:20:37Z","timestamp":1768206037000},"page":"589","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS), Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Instituto Nacional de Ci\u00eancia e Tecnologia em Multi\u00f4mica Aplicada \u00e0 Sa\u00fade de Precis\u00e3o (IMASP), Dasa Genomics and Casa dos Raros, Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Cec\u00edlia Menezes de","family":"Siqueira","sequence":"additional","affiliation":[{"name":"Treatment Center of Inborn Errors of Metabolism, Instituto de Medicina Integral Professor Fernando Figueira, Recife 50070-902, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2239-0882","authenticated-orcid":false,"given":"Ana Maria","family":"Martins","sequence":"additional","affiliation":[{"name":"Reference Center in Inborn Errors of Metabolism, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04021-001, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca Fernandes","family":"Marcondes","sequence":"additional","affiliation":[{"name":"Sanofi, S\u00e3o Paulo 04794-000, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina Fischinger Moura de","family":"Souza","sequence":"additional","affiliation":[{"name":"Clinical Research Servicer, Casa dos Raros, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7726-4301","authenticated-orcid":false,"given":"Dafne","family":"Dain Gandelman Horovitz","sequence":"additional","affiliation":[{"name":"Centro de Genetica Medica, Instituto Nacional de Saude da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira, Funda\u00e7\u00e3o Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Em\u00edlia Katiane Embiru\u00e7u","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Bahia State, Salvador 41150-000, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaelle","family":"Gusto","sequence":"additional","affiliation":[{"name":"Certara, 7500 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerson da Silva","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Hospital de Base do Distrito Federal Hospital da Crian\u00e7a de Bras\u00edlia, Bras\u00edlia 70684-831, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6325-3086","authenticated-orcid":false,"given":"Osvaldo","family":"Artigal\u00e1s","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Moinhos de Vento Hospital, Porto Alegre 90560-032, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Boy","sequence":"additional","affiliation":[{"name":"Medical Genetics, Pedro Ernesto University Hospital\u2014UERJ, Rio de Janeiro 20551-030, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Rosa de","family":"Stefani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeraj Singh","family":"Rawat","sequence":"additional","affiliation":[{"name":"Sanofi, Hyderabad 500081, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerasimos","family":"Konidaris","sequence":"additional","affiliation":[{"name":"Sanofi, Reading RG6 1PT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101888","DOI":"10.1016\/j.gimo.2024.101888","article-title":"The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency","volume":"2","author":"Kumar","year":"2024","journal-title":"Genet. Med. Open"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s13023-017-0572-x","article-title":"Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)","volume":"12","author":"McGovern","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgme.2016.12.008","article-title":"Types A and B Niemann-Pick disease","volume":"120","author":"Schuchman","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_4","unstructured":"Adam, M.P., Bick, S., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (2006). Acid sphingomyelinase deficiency. GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_5","first-page":"119","article-title":"Burden of illness in acid sphingomyelinase deficiency: A retrospective chart review of 100 patients","volume":"41","author":"Cox","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_6","first-page":"100344","article-title":"Prevalence of lysosomal storage disorders in Australia from 2009 to 2020","volume":"19","author":"Chin","year":"2022","journal-title":"Lancet Reg. Health West. Pac."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.beem.2014.08.004","article-title":"Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening","volume":"29","author":"Kingma","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","article-title":"Prevalence of lysosomal storage diseases in Portugal","volume":"12","author":"Pinto","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s10545-010-9093-7","article-title":"The birth prevalence of lysosomal storage disorders in the Czech Republic: Comparison with data in different populations","volume":"33","author":"Poupetova","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1590\/1678-4685-gmb-2016-0268","article-title":"Relative frequency and estimated minimal frequency of lysosomal storage diseases in Brazil: Report from a reference laboratory","volume":"40","author":"Giugliani","year":"2017","journal-title":"Genet. Mol. Biol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e341","DOI":"10.1542\/peds.2007-3016","article-title":"A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B","volume":"122","author":"McGovern","year":"2008","journal-title":"Pediatrics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ymgme.2016.05.001","article-title":"Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases","volume":"118","author":"Cassiman","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"20972","DOI":"10.1038\/s41598-021-99921-6","article-title":"Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective","volume":"11","author":"Pokrzywinski","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.ymgme.2018.11.014","article-title":"Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)","volume":"126","author":"Wasserstein","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_16","unstructured":"(2022). Xenpozyme\u2122 (Olipudase Alfa-Rpcp) for Injection, for Intravenous Use: US Prescribing information, Sanofi."},{"key":"ref_17","unstructured":"(2022). Xenpozyme\u00ae (Olipudase Alfa) Approved by European Commission as First and Only Treatment for ASMD, Sanofi."},{"key":"ref_18","unstructured":"(2025, April 15). Olipudase Alfa (Xenpozyme\u2122) IV Infusion: Japanese Prescribing Information. Available online: https:\/\/www.pmda.go.jp\/files\/000247409.pdf."},{"key":"ref_19","unstructured":"(2025, April 15). Xenpozyme (Alfaolipudase): New Record, Available online: https:\/\/www.gov.br\/anvisa\/pt-br\/assuntos\/medicamentos\/novos-medicamentos-e-indicacoes\/xenpozyme-alfaolipudase-novo-registro."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1186\/s13023-022-02587-0","article-title":"Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: Two-year results","volume":"17","author":"Diaz","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/j.gim.2022.03.021","article-title":"A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results","volume":"24","author":"Wasserstein","year":"2022","journal-title":"Genet. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1186\/s13023-023-02983-0","article-title":"Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: Open-label extension of the ASCEND trial","volume":"18","author":"Wasserstein","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_23","first-page":"101040","article-title":"Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study","volume":"38","author":"Dehipawala","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1186\/s13023-024-03174-1","article-title":"A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany","volume":"19","author":"Mengel","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1186\/s13023-024-03234-6","article-title":"Acid sphingomyelinase deficiency in France: A retrospective survival study","volume":"19","author":"Mauhin","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1186\/s13023-021-01842-0","article-title":"Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation","volume":"16","author":"McGovern","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"102264","DOI":"10.1016\/j.gimo.2025.102264","article-title":"P299: Identification and diagnostic protocol for suspected acid sphingomyelinase deficiency in a medical genetics service in S\u00e3o Paulo","volume":"3","author":"Batista","year":"2025","journal-title":"Genet. Med. Open"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1038\/gim.2013.4","article-title":"Morbidity and mortality in type B Niemann-Pick disease","volume":"15","author":"McGovern","year":"2013","journal-title":"Genet. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e672","DOI":"10.1542\/peds.2004-0887","article-title":"The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study","volume":"114","author":"Wasserstein","year":"2004","journal-title":"Pediatrics"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.jpeds.2004.02.048","article-title":"Lipid abnormalities in children with types A and B Niemann Pick disease","volume":"145","author":"McGovern","year":"2004","journal-title":"J. Pediatr."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/2\/589\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T05:13:30Z","timestamp":1768367610000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/2\/589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,12]]},"references-count":30,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["jcm15020589"],"URL":"https:\/\/doi.org\/10.3390\/jcm15020589","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,12]]}}}