Results 121 to 130 of about 131,722 (303)

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Vacancy defect‐induced electron homing breaks phosphodiester bonds for RNA depletion‐driven cancer therapy

BMEMat, EarlyView.
Illustration of 5% S‐vacancy Bi2S3 mediated phosphodiester bonds cleavage in RNA of hepatocellular carcinoma cells, which suppressing ERI3 expression, inhibiting cell proliferation and promoting apoptosis. Abstract Genome‐wide hypertranscription is a hallmark of malignant progression.
Chuncheng Yang, Zehao Shen, Guangming Xiang, Zhe Liu, Huaxin Liu, Jiabei Li, Ao Wang, Yelin Wu, Peiran Zhao, Xingwu Jiang, Jinghan Wang, Xiaoqing Jiang, Wenbo Bu   +12 more
wiley   +1 more source

Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro

Nature Communications
Dominant negative pathogenic variants in KIF1A result in an allelically heterogeneous neurodegenerative condition that manifests as a variable clinical phenotype including seizures, cognitive deficits, optic nerve atrophy, spasticity, and peripheral ...
Michael V. Zuccaro, Randee E. Young, Jiangyuan Hu, Patricia Lanzano, Ekaterina Semenova, Xiaoqi Lin, Alicja Skowronski, Yufeng Shen, Tae Hyun Kim, Danny E. Miller, Noelle Germain, Patrick Sarmiere, Charles A. LeDuc, Wendy K. Chung   +13 more
doaj   +1 more source

Self‐Immolative Gels: Programmable Degradation Using Self‐Immolative Linkers and Polymers

Chemistry – A European Journal, EarlyView.
Self‐immolative linkers and polymers undergo bond‐cleaving reaction cascades in response to specific stimuli. Their incorporation into gels can be harnessed to release cargo, induce property changes, or trigger degradation in a highly controlled manner. These functions can be employed in applications such as sensing and drug delivery.
Chuanfeng Li, Elizabeth R. Gillies
wiley   +1 more source

Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis

Drug Design, Development and Therapy, 2019
Veena Mathew,1 Annabel K Wang1,2 1Department of Neurology, UCI ALS and Neuromuscular Center, University of California, Irvine, Orange, CA, USA; 2Neurology Section, Tibor Rubin VA Medical Center, Long Beach, CA, USA Abstract: Hereditary transthyretin ...
Mathew V, Wang AK
doaj  

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Evolution of the European Medicines Agency clinical guidelines for epilepsy drug development between 2010 and 2025: A comparative analysis by the ILAE Task Force on Regulatory Affairs

Epilepsia, EarlyView.
Abstract Objective The latest European Medicines Agency (EMA) guideline on the clinical investigation of medicines to treat epileptic disorders was adopted by the EMA Committee for Medicinal Products for Human Use in 2025. We compared this guideline with the previous version (2010), highlighting areas where significant revisions were introduced ...
Stéphane Auvin, Alexis Arzimanoglou, Jacqueline French, Kelly G. Knupp, Lieven Lagae, Eugen Trinka, Dennis Dlugos, Emilio Perucca   +7 more
wiley   +1 more source