Research & Literature

Niemann-Pick type B in adulthood.

Simões RG, Maia H

BMJ case reports 2015; (2015()).

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

McGovern MM, Wasserstein MP, Kirmse B, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2016; (18(1)):34-40 doi:10.1038/gim.2015.24.

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

Wasserstein MP, Jones SA, Soran H, et al.

Molecular genetics and metabolism 2015; (116(1-2)):88-97.

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.

Chuang WL, Pacheco J, Cooper S, et al.

Molecular genetics and metabolism reports 2015; (3()):55-7 doi:10.1016/j.ymgmr.2015.04.001.

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, et al.

Molecular genetics and metabolism 2016; (118(3)):206-213 doi:10.1016/j.ymgme.2016.05.001.

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Vanier MT, Gissen P, Bauer P, et al.

Molecular genetics and metabolism 2016; (118(4)):244-54.

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.

Zhou YF, Metcalf MC, Garman SC, et al.

Nature communications 2016; (7()):13082 doi:10.1038/ncomms13082.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

Lidove O, Belmatoug N, Froissart R, et al.

La Revue de medecine interne 2017; (38(5)):291-299 doi:10.1016/j.revmed.2016.10.387.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

McGovern MM, Avetisyan R, Sanson BJ, Lidove O

Orphanet journal of rare diseases 2017; (12(1)):41 doi:10.1186/s13023-017-0572-x.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Kuchar L, Sikora J, Gulinello ME, et al.

Analytical biochemistry 2017; (525()):73-77 doi:10.1016/j.ab.2017.02.019.

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, et al.

Molecular genetics and metabolism 2018; (123(2)):76-84 doi:10.1016/j.ymgme.2017.12.431.

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.

Deodato F, Boenzi S, Taurisano R, et al.

Clinica chimica acta; international journal of clinical chemistry 2018; (486()):387-394 doi:10.1016/j.cca.2018.08.039.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, et al.

Molecular genetics and metabolism 2019; (126(2)):98-105 doi:10.1016/j.ymgme.2018.11.014.

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation.

Aldosari MH, de Vries RP, Rodriguez LR, et al.

European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V 2019; (137()):185-195 doi:10.1016/j.ejpb.2019.02.019.

Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency.

Cassiman D, Libbrecht L, Meersseman W, Wilmer A

Case reports in gastrointestinal medicine 2019; (2019()):9613457 doi:10.1155/2019/9613457.

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.

Jones SA, McGovern M, Lidove O, et al.

Molecular genetics and metabolism 2020; (131(1-2)):116-123 doi:10.1016/j.ymgme.2020.06.008.

Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).

Opoka L, Wyrostkiewicz D, Radwan-Rohrenschef P, et al.

The American journal of case reports 2020; (21()):e923394 doi:10.12659/AJCR.923394.

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.

Hu J, Maegawa GHB, Zhan X, et al.

Human mutation 2021; (42(5)):614-625 doi:10.1002/humu.24192.

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.

Diaz GA, Jones SA, Scarpa M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(8)):1543-1550 doi:10.1038/s41436-021-01156-3.

Interstitial lung disease in lysosomal storage disorders.

Borie R, Crestani B, Guyard A, Lidove O

European respiratory review : an official journal of the European Respiratory Society 2021; (30(160)) doi:10.1183/16000617.0363-2020.

Bilateral Cystic Bronchiectasis as Novel Phenotype of Niemann-Pick Disease Type B Successfully Treated With Double Lung Transplantation.

Tirelli C, Arbustini E, Meloni F

Chest 2021; (159(5)):e293-e297 doi:10.1016/j.chest.2020.11.074.

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.

McGovern MM, Wasserstein MP, Bembi B, et al.

Orphanet journal of rare diseases 2021; (16(1)):212 doi:10.1186/s13023-021-01842-0.

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Deshpande D, Gupta SK, Sarma AS, et al.

Human mutation 2021; (42(10)):1336-1350 doi:10.1002/humu.24263.

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.

Mauhin W, Borie R, Dalbies F, et al.

Journal of clinical medicine 2022; (11(4)) doi:10.3390/jcm11040920.

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, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(7)):1425-1436 doi:10.1016/j.gim.2022.03.021.

Olipudase Alfa: First Approval.

Keam SJ

Drugs 2022; (82(8)):941-947 doi:10.1007/s40265-022-01727-x.

Spontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature.

Lan MY, Kang TW, Lan SC, Huang WT

Journal of clinical lipidology 2022; (16(4)):434-437 doi:10.1016/j.jacl.2022.06.002.

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.

Blümlein U, Mengel E, Amraoui Y

Molecular genetics and metabolism reports 2022; (32()):100900 doi:10.1016/j.ymgmr.2022.100900.

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

Kubaski F, Burlina A, Pereira D, et al.

Orphanet journal of rare diseases 2022; (17(1)):407 doi:10.1186/s13023-022-02560-x.

Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.

Cappellini MD, Motta I, Barbato A, et al.

European journal of internal medicine 2023; (108()):81-84 doi:10.1016/j.ejim.2022.11.028.

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, et al.

Orphanet journal of rare diseases 2022; (17(1)):437 doi:10.1186/s13023-022-02587-0.

Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.

Pan YW, Tsai MC, Yang CY, et al.

Molecular genetics and metabolism reports 2023; (34()):100957 doi:10.1016/j.ymgmr.2023.100957.

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.

Scarpa M, Barbato A, Bisconti A, et al.

Internal and emergency medicine 2023; (18(3)):831-842 doi:10.1007/s11739-023-03238-3.

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

Wang R, Qin Z, Huang L, et al.

Hereditas 2023; (160(1)):11 doi:10.1186/s41065-023-00272-1.

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

Geberhiwot T, Wasserstein M, Wanninayake S, et al.

Orphanet journal of rare diseases 2023; (18(1)):85 doi:10.1186/s13023-023-02686-6.

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.

Oliva P, Schwarz M, Mechtler TP, et al.

Molecular genetics and metabolism 2023; (139(1)):107563 doi:10.1016/j.ymgme.2023.107563.

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, et al.

Orphanet journal of rare diseases 2023; (18(1)):94 doi:10.1186/s13023-023-02700-x.

Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use.

Syed YY

Clinical drug investigation 2023; (43(5)):369-377 doi:10.1007/s40261-023-01270-x.

Case report: The spectrum of SMPD1 pathogenic variants in Hungary.

Molnar MJ, Szlepak T, Csürke I, et al.

Frontiers in genetics 2023; (14()):1158108 doi:10.3389/fgene.2023.1158108.

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.

Arslan N, Coker M, Gokcay GF, et al.

Frontiers in pediatrics 2023; (11()):1113422 doi:10.3389/fped.2023.1113422.

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, et al.

Orphanet journal of rare diseases 2023; (18(1)):378 doi:10.1186/s13023-023-02983-0.

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.

Hickey RE, Baker J

Journal of inherited metabolic disease 2024; (47(6)):1363-1370 doi:10.1002/jimd.12780.

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency.

Fiori L, Tagi VM, Montanari C, et al.

Molecular genetics and metabolism reports 2024; (40()):101120 doi:10.1016/j.ymgmr.2024.101120.

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.

Eskes ECB, van Dussen L, Brands MMMG, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12789 doi:10.1002/jimd.12789.

The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency.

Kumar M, Aguiar M, Jessel A, et al.

Genetics in medicine open 2024; (2()):101888 doi:10.1016/j.gimo.2024.101888.

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.

Froissart R, Pettazzoni M, Pagan C, et al.

Molecular genetics and metabolism 2025; (145(1)):109081 doi:10.1016/j.ymgme.2025.109081.

The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults.

Eskes ECB, van den Berg-Faaij SAM, Wassenaar NPM, et al.

Molecular genetics and metabolism 2025; (145(2)):109107 doi:10.1016/j.ymgme.2025.109107.

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series.

Costa I Colomer J, Garcia-Moyano M, Maiz L, et al.

Respiratory medicine case reports 2025; (55()):102202 doi:10.1016/j.rmcr.2025.102202.

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

Gedallovich J, Rodriguez-Gil JL, Martin B, Fernandez-Pol S

Journal of hematopathology 2025; (18(1)):24 doi:10.1007/s12308-025-00641-x.

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt.

Youssef MAM, Shaker EH, Saleh NAM

Molecular and cellular pediatrics 2025; (12(1)):11 doi:10.1186/s40348-025-00199-9.

Lysosomal Storage Disorders.

Cefalo J, Crestani B, Guyard A, et al.

Seminars in respiratory and critical care medicine 2026; (47(4)):434-445 doi:10.1055/a-2715-6812.

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.

Wasserstein MP, Hollak CE, Barbato A, et al.

Journal of inherited metabolic disease 2026; (49(3)):e70192 doi:10.1002/jimd.70192.

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.

Robin MC, Durand C, Guelbert G, et al.

JIMD reports 2026; (67(4)):e70104 doi:10.1002/jmd2.70104.