Results 21 to 30 of about 406 (138)

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. [PDF]

J Inherit Metab Dis, 2018
AbstractOlipudase alfa, a recombinant human acid sphingomyelinase (ASM), is an enzyme replacement therapy for the treatment of nonneurologic manifestations of acid sphingomyelinase deficiency (ASMD). This ongoing, open‐label, long‐term study (NCT02004704) assessed safety and efficacy of olipudase alfa following 30 months of treatment in five adult ...
Wasserstein MP, Diaz GA, Lachmann RH, Jouvin MH, Nandy I, Ji AJ, Puga AC.   +6 more
europepmc   +7 more sources

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. [PDF]

Am J Surg Pathol, 2016
Acid sphingomyelinase deficiency (ASMD; Niemann-Pick disease type A and B) is a lysosomal storage disorder characterized by abnormal intracellular sphingomyelin (SM) accumulation. Prominent liver involvement results in hepatomegaly, fibrosis/cirrhosis, abnormal liver chemistries, and a proatherogenic lipid profile. Olipudase alfa (recombinant human ASM)
Thurberg BL, Wasserstein MP, Jones SA, Schiano TD, Cox GF, Puga AC.   +5 more
europepmc   +7 more sources

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

Molecular Genetics and Metabolism Reports, 2023
Background: Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multi-systemic involvement, with no disease-modifying treatment available. Olipudase alfa is an investigational enzyme product developed to replace the deficient acid
Yu-Wen Pan, Meng-Che Tsai, Chiao-Yu Yang, Wen-Hao Yu, Bow Wang, Yao-Jong Yang, Yen-Yin Chou   +6 more
doaj   +2 more sources

Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan [PDF]

Molecular Genetics and Metabolism Reports
Background: The ultra-rare lysosomal storage disease, Acid sphingomyelinase deficiency (ASMD), is currently managed with olipudase alfa, an enzyme replacement therapy (ERT). Specifically targeting the non-neurological manifestations in chronic ASMD cases,
Yu-Wen Pan, Wen-Hao Yu, Meng-Che Tsai, Yen-Yin Chou   +3 more
doaj   +2 more sources

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: a first step toward treatment criteria [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Medical ...
Aerts, J.M.F.G., Brands, M.M.M.G. van, Dussen, L. van, Eskes, E.C.B., Hollak, C.E.M., Kuilenburg, A.B.P. van, Sjouke, B., Vaz, F.M.   +7 more
core   +3 more sources

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]

J Inherit Metab Dis
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Ain NU, Vaishnaw M, Mistry PK.
europepmc   +2 more sources

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency. [PDF]

EJHaem
eJHaem, Volume 6, Issue 4, August 2025.
Franch A, Ribell Bachs M, Álamo Moreno JR.   +2 more
europepmc   +2 more sources

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

Molecular and Cellular Pediatrics
Background Thrombocytopenia is the most common hematologic manifestation of acid sphingomyelinase deficiency (ASMD). The introduction of enzyme replacement therapy (ERT) represents significant progress in the treatment landscape of this disorder.
Mervat A. M. Youssef, Esraa Hefzy Shaker, Nahed A M Saleh   +2 more
doaj   +2 more sources

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report. [PDF]

Front Pediatr
BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations.
Kamalova A, Rakhmaeva R, Sageeva G, Safiullina R, Raimova A, Gaichik E, Nasr D, Gobarah AA, Arafat A.   +8 more
europepmc   +3 more sources

Transforming Pediatric Rare Disease Drug Development: Enhancing Clinical Trials and Regulatory Evidence With Virtual Patients. [PDF]

CPT Pharmacometrics Syst Pharmacol
ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Sips F, Virgolin M, Pasculli G, Reali F, Paris A, Janus A, Godfrin Y, Röshammar D, Marchetti L, Knöchel J.   +9 more
europepmc   +2 more sources