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Page 1
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
McGovern MM, Avetisyan R, Sanson BJ, Lidove O. McGovern MM, et al. Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Orphanet J Rare Dis. 2017. PMID: 28228103 Free PMC article. Review.
Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most of …
Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly dev …
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Wasserstein M, Lachmann R, Hollak C, Arash-Kaps L, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Chen Y, Furey S, Thurberg BL, Zaher A, Kumar M. Wasserstein M, et al. Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26. Genet Med. 2022. PMID: 35471153 Free article. Clinical Trial.
Primary efficacy endpoints were percent change from baseline to week 52 in percent predicted diffusing capacity of the lung for carbon monoxide and spleen volume (combined with splenomegaly-related score in the United States). ...RESULTS: Least square mean percent change f …
Primary efficacy endpoints were percent change from baseline to week 52 in percent predicted diffusing capacity of the lung for carbo …
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G, Perez-Luz S, Ramos-Del Saz S, Matamala N, Hernandez-SanMiguel E, Fernandez-Prieto M, Gil-Martin S, Justo I, Marcacuzco A, Martinez-Delgado B. Gomez-Mariano G, et al. Int J Mol Sci. 2023 Aug 10;24(16):12645. doi: 10.3390/ijms241612645. Int J Mol Sci. 2023. PMID: 37628828 Free PMC article.
We observed altered lipid homeostasis in the patient-derived organoids showing the predictable increase in sphingomyelin (SM), together with cholesterol esters (CE) and triacylglycerides (TAG), and a reduction in phosphatidylcholine (PC) and cardiolipins (CL). ...
We observed altered lipid homeostasis in the patient-derived organoids showing the predictable increase in sphingomyelin (SM), togeth …
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM. Eskes ECB, et al. Mol Genet Metab. 2020 May;130(1):16-26. doi: 10.1016/j.ymgme.2020.02.002. Epub 2020 Feb 12. Mol Genet Metab. 2020. PMID: 32088119 Review.
With the upcoming possibility of treatment with enzyme replacement therapy, the need for biomarkers that predict or reflect disease progression has increased. Biomarkers should be validated for their use as surrogate markers of clinically relevant endpoints. ...
With the upcoming possibility of treatment with enzyme replacement therapy, the need for biomarkers that predict or reflect disease p …
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 Free PMC article.
Mean reductions from baseline in spleen and liver volumes were 61% and 49%, respectively (p < 0.0001) and mean percent-predicted-DL(CO) increased by 46.6% (p < 0.0001) in nine patients who performed the test at baseline. ...

Mean reductions from baseline in spleen and liver volumes were 61% and 49%, respectively (p < 0.0001) and mean percent-predicted-D

…
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.
Improvements in the cross-over group after 1 year of treatment paralleled those of the olipudase alfa group from the primary analysis, while clinical improvement continued for those receiving olipudase alfa for 2 years. In the cross-over group, percent-predicted DL(CO) inc …
Improvements in the cross-over group after 1 year of treatment paralleled those of the olipudase alfa group from the primary analysis, while …
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.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cassiman D, et al. Mol Genet Metab. 2016 Jul;118(3):206-213. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Mol Genet Metab. 2016. PMID: 27198631 Free article. Review.
Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
Wang NL, Lin J, Chen L, Lu Y, Xie XB, Abuduxikuer K, Wang JS. Wang NL, et al. BMC Gastroenterol. 2022 May 9;22(1):227. doi: 10.1186/s12876-022-02310-0. BMC Gastroenterol. 2022. PMID: 35534800 Free PMC article.
This study summarized the liver manifestations of patients with ASMD in the early disease course. METHODS: This study enrolled ASMD patients diagnosed by genetic tests between July 2016 and December 2020 in a national pediatric liver center. ...CONCLUSIONS: ASMD can manife …
This study summarized the liver manifestations of patients with ASMD in the early disease course. METHODS: This study enrolled ASMD p …
29 results