One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency [PDF]
Genetics in Medicine, 2021 Purpose: To assess olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.
George A Diaz +2 more
exaly +7 more sources
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency [PDF]
Molecular Genetics and Metabolism, 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 ...
George A Diaz +2 more
exaly +4 more sources
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months [PDF]
Journal of Inherited Metabolic Disease, 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 ...
George A Diaz +2 more
exaly +6 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 ReportsBackground: 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 +3 more
doaj +2 more sources
A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient [PDF]
Molecular Genetics and Metabolism ReportsAcid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with multisystemic involvement. We report a 68-year-old asplenic man with late-onset ASMD and severe interstitial lung disease, chronic respiratory failure, and markedly reduced
Arlindo Guimas, Esmeralda Martins
doaj +2 more sources
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]
J Inherit Metab DisABSTRACT 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
More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations. [PDF]
Clin Pharmacol TherTraditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Grupstra RJ +4 more
europepmc +2 more sources
Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency. [PDF]
EJHaemeJHaem, Volume 6, Issue 4, August 2025.
Franch A +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 PediatricsBackground 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 +2 more
doaj +2 more sources
Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit–Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan [PDF]
International Journal of Neonatal ScreeningAcid sphingomyelinase deficiency (ASMD) is currently treatable with olipudase alfa, increasing the need for early newborn screening (NBS). We conducted a two-center pilot cohort study to characterize dried blood spot (DBS) acid sphingomyelinase (ASM ...
Akie Kato +7 more
doaj +2 more sources