{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["19(1)"],"submitter":["Mauhin W"],"funding":["Sanofi"],"pubmed_abstract":["<h4>Background</h4>Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a need to increase the understanding of morbidity and mortality across children to adults diagnosed with ASMD.<h4>Methods</h4>This observational retrospective survey analysed medical records of patients with ASMD with retrievable data from 27 hospitals in France, diagnosed/followed up between 1<sup>st</sup> January 1990 and 31<sup>st</sup> December 2020. Eligible records were abstracted to collect demographic, medical/developmental history, and mortality data. Survival outcomes were estimated from birth until death using Kaplan-Meier survival analyses; standardised mortality ratio (SMR) was also explored.<h4>Results</h4>A total of 118 medical records of patients with ASMD (type B [n = 94], type A [n = 15], and type A/B [n = 9]) were assessed. The majority of patients were males (63.6%); the median [range] age at diagnosis was 8.0 [1.0-18.0] months (type A), 1.0 [0-3] year (type A/B), and 5.5 [0-73] years (type B). Overall, 30 patients were deceased at the study completion date; the median [range] age at death for patients with ASMD type A (n = 14) was 1 [0-3.6] year, type A/B (n = 6) was 8.5 [3.0-30.9] years, and type B (n = 10) was 57.6 [3.4-74.1] years. The median [95% confidence interval (CI)] survival age from birth in patients with ASMD type A and type A/B was 2.0 [1.8-2.7] years and 11.4 [5.5-18.5] years, respectively. Survival analysis in ASMD type B was explored using SMR [95% CI] analysis (3.5 [1.6-5.9]), which showed that age-specific deaths in the ASMD type B population were 3.5 times more frequent than those in the general French population. The causes of death were mostly severe progressive neurodegeneration (type A: 16.7%), cancer (type B: 16.7%), or unspecified (across groups: 33.3%).<h4>Conclusions</h4>This study illustrated a substantial burden of illness with high mortality rates in patients with ASMD, including adults with ASMD type B, in France."],"journal":["Orphanet journal of rare diseases"],"pagination":["289"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11301966"],"repository":["biostudies-literature"],"pubmed_title":["Acid sphingomyelinase deficiency in France: a retrospective survival study."],"pmcid":["PMC11301966"],"pubmed_authors":["Cabannes-Hamy A","Camou F","Stavris C","Pichard S","Merlot C","Belmatoug N","Lioger B","Grobost V","Abi-Warde MT","Cathebras P","Reynaud-Gaubert ML","Mehdaoui A","ASSUR Study Group","Froissart R","Guffon N","Vanier MT","Keraen J","Heron B","Michaud M","Douillard C","Laredo F","Berthoux E","Levade T","Mauhin W","Uzunhan Y","Lacombe D","Duvivier A","Servettaz A","Berger M","Lavigne C","Lidove O","Kuster A","Schlemmer F","Trouillier S","Pulikottil-Jacob R","Cano A"],"additional_accession":[]},"is_claimable":false,"name":"Acid sphingomyelinase deficiency in France: a retrospective survival study.","description":"<h4>Background</h4>Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a need to increase the understanding of morbidity and mortality across children to adults diagnosed with ASMD.<h4>Methods</h4>This observational retrospective survey analysed medical records of patients with ASMD with retrievable data from 27 hospitals in France, diagnosed/followed up between 1<sup>st</sup> January 1990 and 31<sup>st</sup> December 2020. Eligible records were abstracted to collect demographic, medical/developmental history, and mortality data. Survival outcomes were estimated from birth until death using Kaplan-Meier survival analyses; standardised mortality ratio (SMR) was also explored.<h4>Results</h4>A total of 118 medical records of patients with ASMD (type B [n = 94], type A [n = 15], and type A/B [n = 9]) were assessed. The majority of patients were males (63.6%); the median [range] age at diagnosis was 8.0 [1.0-18.0] months (type A), 1.0 [0-3] year (type A/B), and 5.5 [0-73] years (type B). Overall, 30 patients were deceased at the study completion date; the median [range] age at death for patients with ASMD type A (n = 14) was 1 [0-3.6] year, type A/B (n = 6) was 8.5 [3.0-30.9] years, and type B (n = 10) was 57.6 [3.4-74.1] years. The median [95% confidence interval (CI)] survival age from birth in patients with ASMD type A and type A/B was 2.0 [1.8-2.7] years and 11.4 [5.5-18.5] years, respectively. Survival analysis in ASMD type B was explored using SMR [95% CI] analysis (3.5 [1.6-5.9]), which showed that age-specific deaths in the ASMD type B population were 3.5 times more frequent than those in the general French population. The causes of death were mostly severe progressive neurodegeneration (type A: 16.7%), cancer (type B: 16.7%), or unspecified (across groups: 33.3%).<h4>Conclusions</h4>This study illustrated a substantial burden of illness with high mortality rates in patients with ASMD, including adults with ASMD type B, in France.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2025-04-26T05:34:11.632Z","creation":"2025-04-06T11:31:36.5Z"},"accession":"S-EPMC11301966","cross_references":{"pubmed":["39103853"],"doi":["10.1186/s13023-024-03234-6"]}}