Results 31 to 40 of about 166,938 (112)

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study [PDF]

Orphanet Journal of Rare Diseases
Background 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, Camille Kumps, Jérôme Berger, Jasmin Barman-Aksözen, Christel Tran   +4 more
doaj   +2 more sources

From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children [PDF]

Diagnostics
Background: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage.
Raluca Maria Vlad, Ruxandra Dobritoiu, Daniela Pacurar   +2 more
doaj   +2 more sources

Favorable clinical response to olipudase alfa in a patient with two variants of uncertain significance in SMPD1: a case report

Egyptian Journal of Medical Human Genetics
Background 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, Jorge Álvarez-Longoria, Beatriz De la Fuente-Cortez, Valentina Martínez-Montoya, Ekaterina Sánchez-Romero   +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, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar   +12 more
doaj   +2 more sources

P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY [PDF]

HemaSphere, 2023
Jesus Villarrubia, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa Wasserstein, Nicole Armstrong, Gasparic Maja, Yong Kim, Holly Wong, Abhimanyu Yarramaneni   +11 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

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, Jones SA, Scarpa M, Mengel KE, Giugliani R, Guffon N, Batsu I, Fraser PA, Li J, Zhang Q, Ortemann-Renon C.   +10 more
europepmc   +4 more sources

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

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   +1 more source

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +1 more source

Additional file 1 of Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

, 2022
Additional file 1: Table S1. Demographics and baseline characteristics. Table S2. Spleen and Liver Volumes, Percent Predicted DLCO, and height Z-scores at Baseline and 24 Months for by Age Group. Fig. S1.
Peter Witters (5333999), George A. Diaz (15246724), Catherine Ortemann-Renon (15246730), Monica Kumar (15246733), Abhimanyu Yarramaneni (15246727), Eugen Mengel (670324), Jing Li (10611), Nicole M. Armstrong (4284643), Maurizio Scarpa (3167829), Nathalie Guffon (4281136), Simon A. Jones (9949625), Roberto Giugliani (398540), Yong Kim (199695)   +12 more
core   +1 more source