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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. ...In addition, these guidelines have identified knowledge gaps that must be filled by future research. CONCLUSION: These guideli …
BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the S …
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP. McGovern MM, et al. Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Genet Med. 2017. PMID: 28406489 Free PMC article. Review.
The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal l …
The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the …
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hu J, Maegawa GHB, Zhan X, Gao X, Wang Y, Xu F, Qiu W, Han L, Gu X, Zhang H. Hu J, et al. Hum Mutat. 2021 May;42(5):614-625. doi: 10.1002/humu.24192. Epub 2021 Mar 19. Hum Mutat. 2021. PMID: 33675270
This study aimed to describe and characterize a cohort of 118 patients diagnosed with NPA/B based on clinical, biochemical, and molecular findings, and to identify sound correlations between laboratory findings and clinical presentations. Decreased peripheral leukocyte acid …
This study aimed to describe and characterize a cohort of 118 patients diagnosed with NPA/B based on clinical, biochemical, and molecular fi …
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
Nascimbeni F, Dionisi Vici C, Vespasiani Gentilucci U, Angelico F, Nobili V, Petta S, Valenti L; AISF Rare Diseases Committee. Nascimbeni F, et al. Dig Liver Dis. 2020 Apr;52(4):359-367. doi: 10.1016/j.dld.2019.12.005. Epub 2020 Jan 2. Dig Liver Dis. 2020. PMID: 31902560 Review.
The age at onset and phenotypic expression are highly variable, according to the specific enzymatic defect and tissues involved, the residual activity, and the disease-causing genotype. Enzyme-replacement therapies and substrate-reduction therapies have recently bec …
The age at onset and phenotypic expression are highly variable, according to the specific enzymatic defect and tissues involved, the residua …
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Oliva P, Schwarz M, Mechtler TP, Sansen S, Keutzer J, Prusa AR, Streubel B, Kasper DC. Oliva P, et al. Mol Genet Metab. 2023 May;139(1):107563. doi: 10.1016/j.ymgme.2023.107563. Epub 2023 Mar 30. Mol Genet Metab. 2023. PMID: 37086570
The clinical manifestation of sphingolipidosis leads often to misclassification between acid sphingomyelinase deficiency (ASMD) and Gaucher disease. In this multicenter, prospective study, we investigated a cohort of 31,838 individuals suspected to have Gauch …
The clinical manifestation of sphingolipidosis leads often to misclassification between acid sphingomyelinase deficiency …
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
Lachmann RH, Diaz GA, Wasserstein MP, Armstrong NM, Yarramaneni A, Kim Y, Kumar M. Lachmann RH, et al. Orphanet J Rare Dis. 2023 Apr 25;18(1):94. doi: 10.1186/s13023-023-02700-x. Orphanet J Rare Dis. 2023. PMID: 37098529 Free PMC article.
BACKGROUND: Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children and adults. . …
BACKGROUND: Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indic …
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H. Chang S, et al. JAMA Netw Open. 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. JAMA Netw Open. 2024. PMID: 38739391 Free PMC article.
Data were analyzed from January 2021 through October 2022. EXPOSURES: All participants were screened for Gaucher, acid sphingomyelinase deficiency (ASMD), Krabbe, mucopolysaccharidosis type I, Fabry, and Pompe diseases using dried blood spots. ...
Data were analyzed from January 2021 through October 2022. EXPOSURES: All participants were screened for Gaucher, acid sphingomyel …
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.
Wasserstein MP, Lachmann R, Hollak C, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Thurberg BL, Yarramaneni A, Armstrong NM, Kim Y, Kumar M. Wasserstein MP, et al. Orphanet J Rare Dis. 2023 Dec 2;18(1):378. doi: 10.1186/s13023-023-02983-0. Orphanet J Rare Dis. 2023. PMID: 38042851 Free PMC article.
BACKGROUND: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). ...
BACKGROUND: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nerv …
Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?
Maines E, Franceschi R, Rizzardi C, Deodato F, Piccoli G, Gragnaniello V, Burlina A, Soffiati M. Maines E, et al. J Clin Lipidol. 2022 Mar-Apr;16(2):143-154. doi: 10.1016/j.jacl.2022.01.008. Epub 2022 Feb 1. J Clin Lipidol. 2022. PMID: 35181260 Review.
Niemann-Pick disease (NPD) type A and type B are part of the spectrum disease of the acid sphingomyelinase deficiency (ASMD). Plasma lipid abnormalities are frequently associated with both NPD-A and NPD-B, and include decreased high-density lipoprotein choles …
Niemann-Pick disease (NPD) type A and type B are part of the spectrum disease of the acid sphingomyelinase deficiency ( …
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P, Shi T. Wang R, et al. Hereditas. 2023 Mar 13;160(1):11. doi: 10.1186/s41065-023-00272-1. Hereditas. 2023. PMID: 36907956 Free PMC article.
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM). ...
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare geneti …
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