Results 61 to 70 of about 406 (138)

Precision medicine for lysosomal disorders [PDF]

, 2020
Precision medicine (PM) is an emerging approach for disease treatment and preventionthat accounts for the individual variability in the genes, environment, and lifestyle of each person.Lysosomal diseases (LDs) are a group of genetic metabolic disorders ...
Baldo, Guilherme, Giugliani, Roberto, Kubaski, Francyne, Málaga, Diana Elizabeth Rojas, Poswar, Fabiano de Oliveira, Souza, Carolina Fischinger Moura de, Vairo, Filippo Pinto e   +6 more
core  

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

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

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches [PDF]

, 2022
Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations.

core   +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

European Medicines Agency’s Priority Medicines scheme at 2 years: an evaluation of clinical studies supporting eligible drugs [PDF]

, 2019
The Priority Medicines (PRIME) scheme was launched by the European Medicines Agency (EMA) in 2016 to expedite the development and approval of promising products targeting conditions with high unmet medical need.
Hwang, Thomas, Naci, Huseyin, Neez, Emilie Marie Celine Anne, Sahoo, Samali Anova   +3 more
core   +2 more sources

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

Neimann-Pick Diseases: Beyond Lipid Accumulation – Genetic, Diagnostics, and Therapeutic Strategies [PDF]

Rare genetic disorders are the group of disorders/diseases that occur in such a low count that they are not considered much active market for therapeutics unless encouraged by appropriate incentives and support. They are too rare to be fully investigated
Naffadi, Hind M
core   +2 more sources

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