Results 31 to 40 of about 406 (138)

PMDA Perspective on Use of Real-World Data and Real-World Evidence as an External Control: Recent Examples and Considerations. [PDF]

Clin Pharmacol Ther
Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Asano J, Sugano H, Murakami H, Noguchi A, Ando Y, Uyama Y.   +5 more
europepmc   +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

Recent Utilization of Pediatric Extrapolation and Modeling and Simulation Approaches in Pediatric Drug Development in Japan. [PDF]

J Clin Pharmacol
Abstract In Japan, the percentage of approved drugs with pediatric indications increased to 30% in 2010‐2015, but no further increase was observed through 2020. The Ministry of Health, Labor, and Welfare in Japan presented draft future directions to promote pediatric drug development, where the modeling and simulation (M&S) approach was introduced as a
Nakashima A, Tsujimoto A, Saito M, Takeda J, Natori M, Shoji S.   +5 more
europepmc   +2 more sources

Landscape of regulatory quantitative systems pharmacology submissions to the U.S. Food and Drug Administration: An update report. [PDF]

CPT Pharmacometrics Syst Pharmacol
Abstract The number of quantitative systems pharmacology (QSP) submissions to the U.S. Food and Drug Administration has continued to increase over the past decade. This report summarizes the landscape of QSP submissions as of December 2023. QSP was used to inform drug development across various therapeutic areas and throughout the drug development ...
Bai JPF, Liu G, Zhao M, Wang J, Xiong Y, Truong T, Earp JC, Yang Y, Liu J, Zhu H, Burckart GJ.   +10 more
europepmc   +2 more sources

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [PDF]

Genetics in Medicine Open, 2023
Monica Penon-Portmann, Sheri A. Poskanzer, Jaya Ganesh, Irene Chang   +3 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

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

Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report. [PDF]

J Bras Pneumol
Bridi GDP, Kairalla RA, Sawamura MVY, Baldi BG.   +3 more
europepmc   +3 more sources