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 +3 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
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency. [PDF]
Genet Med, 2022 To assess olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.This phase 1/2, international, multicenter, open-label trial (ASCEND-Peds/NCT02292654) administered intravenous olipudase alfa every 2 weeks with intrapatient dose escalation to 3 mg/kg.
Diaz GA +10 more
europepmc +4 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
Egyptian Journal of Medical Human GeneticsBackground Acid sphingomyelinase deficiency (ASMD), also known as Niemann–Pick disease, is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the Sphingomyelin phosphodiesterase 1 (SMPD1) gene, leading to the deficient activity ...
Luz María Sánchez-Sánchez +4 more
doaj +2 more sources
Correction to: Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use. [PDF]
Clin Drug Investig, 2023 Syed YY.
europepmc +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
From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children [PDF]
DiagnosticsBackground: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage.
Raluca Maria Vlad +2 more
doaj +2 more sources
Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study [PDF]
Orphanet Journal of Rare DiseasesBackground Orphan drugs (ODs) are increasingly used to treat rare diseases, including inherited metabolic diseases (IMDs), but real-world access remains insufficiently characterized.
Giovanni De Antoni +4 more
doaj +2 more sources
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results [PDF]
Orphanet Journal of Rare Diseases, 2023 George A. Diaz +12 more
doaj +2 more sources