Results 41 to 50 of about 285 (98)

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

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

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient

Molecular Genetics and Metabolism Reports
Acid 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   +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

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

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

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience

Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1363-1370, November 2024.
Abstract Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme.
Rachel E. Hickey, Joshua Baker
wiley   +1 more source

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders

JIMD Reports, Volume 65, Issue 5, Page 330-340, September 2024.
Abstract The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross‐sectional data on visceral, hematological, and biochemical manifestations of untreated adult patients with chronic visceral ...
Eline C. B. Eskes, Laura van Dussen, Johannes M. F. G. Aerts, Martijn J. C. van der Lienden, Mario Maas, Erik M. Akkerman, André B. P. van Kuilenburg, Barbara Sjouke, Carla E. M. Hollak   +8 more
wiley   +1 more source