Results 41 to 50 of about 166,938 (112)

Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case

Вопросы современной педиатрии
Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingolipids in the ...
Diana V. Golygina, Aikhee K.-D. Begzy, Viktoriya A. Deeva, Natalya N. Borovik, Vladimir A. Shcherbak   +4 more
doaj   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Recent Utilization of Pediatric Extrapolation and Modeling and Simulation Approaches in Pediatric Drug Development in Japan

The Journal of Clinical Pharmacology, Volume 65, Issue 12, Page 1889-1899, December 2025.
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
Akinori Nakashima, Akihide Tsujimoto, Masako Saito, Jun Takeda, Makiko Natori, Satoshi Shoji   +5 more
wiley   +1 more source

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

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1739-1742, November 2025.
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 ...
Fianne Sips, Marco Virgolin, Giuseppe Pasculli, Federico Reali, Alessio Paris, Annette Janus, Yann Godfrin, Daniel Röshammar, Luca Marchetti, Jane Knöchel   +9 more
wiley   +1 more source

The Impact of QSP Modeling on the Design and Optimization of Gene Therapy Approaches

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1760-1764, November 2025.
ABSTRACT Quantitative Systems Pharmacology (QSP) is increasingly utilized to support the design and translation of gene therapies. This perspective outlines the application of QSP modeling across three domains of gene therapy: mRNA‐based therapeutics, adeno‐associated virus (AAV) vectors, and genome editing systems.
Noha Rayad, Ekram A. Chowdhury, Guy M. L. Meno‐Tetang   +2 more
wiley   +1 more source

DOENÇA DE NIEMANN-PICK TIPO B NO ADULTO - RELATO DE CASO

Hematology, Transfusion and Cell Therapy
Introdução: A doença de Niemann-Pick é uma doença genética autossômica recessiva caracterizada pela mutação no gene da esfingomielina fosfodiesterase-1 (SMPD1).
LO Falcão, RDA Soares, FAAES Junior, NC Conrrado   +3 more
doaj   +1 more source

Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary Involvement

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease. The most commonly affected organs are the spleen, the liver, and the lungs. Pulmonary involvement resembles interstitial lung disease and often leads to decreased diffusion capacity of the lungs for carbon monoxide (DLCO).
Eline C. B. Eskes, Bauke V. Schomakers, Michel van Weeghel, Suzanne W. J. Terheggen‐Lagro, Lilian J. Meijboom, Carla E. M. Hollak, Paul Brinkman, Barbara Sjouke   +7 more
wiley   +1 more source

PMDA Perspective on Use of Real‐World Data and Real‐World Evidence as an External Control: Recent Examples and Considerations

Clinical Pharmacology &Therapeutics, Volume 117, Issue 4, Page 910-919, April 2025.
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.
Junichi Asano, Hiromi Sugano, Hiroyuki Murakami, Atsushi Noguchi, Yuki Ando, Yoshiaki Uyama   +5 more
wiley   +1 more source

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Acid sphingomyelinase deficiency (ASMD) is an ultra‐rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations of the chronic visceral subtype are variable and encompass different degrees of hepatosplenomegaly, pulmonary disease and ...
Eline C. B. Eskes, Laura van Dussen, Marion M. M. G. Brands, Frédéric M. Vaz, Johannes M. F. G. Aerts, André B. P. van Kuilenburg, Barbara Sjouke, Carla E. M. Hollak   +7 more
wiley   +1 more source

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

CPT: Pharmacometrics &Systems Pharmacology, Volume 13, Issue 12, Page 2102-2110, December 2024.
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 ...
Jane P. F. Bai, Guansheng Liu, Miao Zhao, Jie Wang, Ye Xiong, Tien Truong, Justin C. Earp, Yuching Yang, Jiang Liu, Hao Zhu, Gilbert J. Burckart   +10 more
wiley   +1 more source