Results 11 to 20 of about 406 (138)

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

Molecular Genetics and Metabolism Reports
Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis is a very rare and life-threatening adverse reaction described for this drug.
Laura Fiori, Veronica Maria Tagi, Chiara Montanari, Mirko Gambino, Veronica Carlevatti, Carmela Zizzo, Enza D'Auria, Dario Dilillo, Elvira Verduci, Gianvincenzo Zuccotti   +9 more
doaj   +8 more sources

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase.
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin   +6 more
doaj   +6 more sources

Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology [PDF]

CPT: Pharmacometrics & Systems Pharmacology, 2018
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with heterogeneous clinical manifestations, including hepatosplenomegaly and infiltrative pulmonary disease, and is associated with significant morbidity and mortality ...
Chanchala D. Kaddi, Bradley Niesner, Rena Baek, Paul Jasper, John Pappas, John Tolsma, Jing Li, Zachary van Rijn, Mengdi Tao, Catherine Ortemann‐Renon, Rachael Easton, Sharon Tan, Ana Cristina Puga, Edward H. Schuchman, Jeffrey S. Barrett, Karim Azer   +15 more
doaj   +7 more sources

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease characterized by hepatosplenomegaly, pulmonary dysfunction, dyslipidemia, and growth deficits. Olipudase alfa (recombinant‐human ASM) is the only treatment for non‐central‐nervous‐system ASMD manifestations in children and adults. An open‐label long‐term study followed
Scarpa M, Diaz GA, Giugliani R, Jones SA, Mengel E, Guffon N, Witters P, Ganesh J, Armstrong NM, Srivastava S, Kim Y.   +10 more
europepmc   +3 more sources

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

Genetics in Medicine Open
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate ...
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman   +8 more
doaj   +4 more sources

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study [PDF]

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly, interstitial lung disease (ILD), bone marrow disease, and growth failure.
Drew B. Sinha, William L. Simpson, Andrew Ting, Louise Bier, Mary Freeman, Lauren Mackenzie Mason, George A. Diaz, Jaya Ganesh   +7 more
doaj   +4 more sources

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults : one-year results [PDF]

Genetics in Medicine, 2022
Purpose: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults.
Giugliani, Roberto, Kumar, Monica, Wasserstein, Melissa P.   +2 more
core   +6 more sources

PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL [PDF]

HemaSphere, 2022
J. Villarrubia, M. Wasserstein, A. Barbato, R. C. Gallagher, R. Giugliani, N. B. Guelbert, J. B. Hennermann, C. Hollak, T. Ikezoe, R. Lachmann, O. Lidove, P. Mabe, E. Mengel, M. Scarpa, E. Senates, M. Tchan, B. L. Thurberg, A. Yarramaneni, A. M. Rawlings, Y. Kim, M. Kumar   +20 more
doaj   +3 more sources

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

Clin Drug Investig, 2023
Olipudase alfa (Xenpozyme™) is an intravenously administered acid sphingomyelinase enzyme replacement therapy indicated to treat non-CNS manifestations of acid sphingomyelinase deficiency (ASMD) in adult and paediatric patients. It is the first and currently the only disease-modifying treatment for ASMD.
Syed YY.
europepmc   +5 more sources

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

Mol Genet Metab, 2015
Olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is an investigational enzyme replacement therapy (ERT) for patients with ASM deficiency [ASMD; Niemann-Pick Disease (NPD) A and B]. This open-label phase 1b study assessed the safety and tolerability of olipudase alfa using within-patient dose escalation to gradually debulk accumulated ...
Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC.   +10 more
europepmc   +5 more sources