Results 91 to 100 of about 6,859 (228)

Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen [PDF]

, 2021
Nusinersen is an antisense oligonucleotide approved for the treatment of spinal muscular atrophy. The drug is given intrathecally at 12 mg, beginning with 3 loading doses at 2-week intervals, a fourth loading dose 30 days thereafter, and maintenance ...
Berger, Z, East, L, Farrar, MA, Farwell, W, Finkel, RS, Kirschner, J, MacCannell, D, Mercuri, E, Muntoni, F, Nestorov, I, Peng, J, Zhou, J   +11 more
core  

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by targeting the RNA splicing site of ...
Wenjing Li, Qin Zhang, Hongjun Miao, Jin Xu   +3 more
doaj   +1 more source

A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 2, Page 297-303, February 2026.
ABSTRACT Introduction/Aims A pragmatic evaluation of bulbar function among adults with spinal muscular atrophy (awSMA) is needed, requiring the validation of a low‐cost, feasible outcome measure (OM). Maximum phonation time (MPT) and S/Z ratio (S/Z) are potential low‐cost OMs for bulbar function. This study aimed to evaluate the psychometric properties
Jeremy Slayter, Lauren Casey, Dorothy Drost, Shane McCullum, Allison Christie, Colleen O'Connell   +5 more
wiley   +1 more source

Payload‐Driven Design of Polymeric Carriers for Nucleic Acid Delivery: Insights from Structure–Function Relationships

Advanced Science, Volume 13, Issue 4, 19 January 2026.
Polymeric carriers provide versatile platforms for nucleic acid delivery. This review introduces a novel perspective inspired by protein structural organization to explore structure–function relationships of polymeric carriers, highlighting requirements of different nucleic acid payloads.
Hanieh Moradian, Charlotte Maeve Dunne, Manfred Gossen, Matthias Hartlieb   +3 more
wiley   +1 more source

CRISPRi-based radiation modifier screen identifies long non-coding RNA therapeutic targets in glioma. [PDF]

, 2020
BackgroundLong non-coding RNAs (lncRNAs) exhibit highly cell type-specific expression and function, making this class of transcript attractive for targeted cancer therapy.
Akeson, Mark, Birk, Harjus S, Gupta, Nalin, He, Daniel, Hong, Sung Jun, Horlbeck, Max A, Jain, Miten, Koontz, Mark, Lien, Brian V, Lim, Daniel A, Liu, S John, Malatesta, Martina, Monje, Michelle, Olsen, Hugh E, Pedraza, Leslie, Raleigh, David R, Saha, Parna, Seo, Kyounghee, Thombare, Shivani S, Ullian, Erik M, Weissman, Jonathan S   +20 more
core   +1 more source

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment [PDF]

, 2016
Acknowledgments This study is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (FM and HZ), the Medical Research Council ...
Angkathunkayul, Napat, Catapano, Francesco, Marrosu, Elena, Morgan, Jennifer E., Muntoni, Francesco, Parson, Simon H., Sintusek, Palittiya, Zhou, Haiyan   +7 more
core   +2 more sources

Physiologically‐Based Pharmacokinetic Modeling to Support Pediatric Clinical Development: An IQ Working Group Perspective on the Current Status and Challenges

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 1, January 2026.
ABSTRACT Pediatric extrapolation strategies issued by health authorities have streamlined pediatric drug development and reduced the unnecessary burden of conducting pediatric clinical studies. In line with these strategies, physiologically based pharmacokinetic (PBPK) models have been utilized extensively for initial dosing regimen and sampling ...
James W. T. Yates, Michael Zientek, Kunal S. Taskar, Wen Lin, Tycho Heimbach, Stefan Willmann, Jessica Rehmel, Neil Parrott, Michael Hanley, Justine Badee, Yuan Chen, Susan Cole, Loeckie De Zwart, Sebastian Haertter, Rongrong Jiang, Masakatsu Kotsuma, Guiqing Liang, Yu‐Wei Lin, Jing Liu, Ying Ou, Juliane Rascher, Naveed A. Shaik, Jan Wahlstrom, Xiaofeng Wang, Guangqing Xiao, Ka Lai Yee, S. Y. Amy Cheung   +26 more
wiley   +1 more source

Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study

Neurology International
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene.
Anna Lemska, Piotr Ruminski, Jakub Szymarek, Sylwia Studzinska, Maria Mazurkiewicz-Beldzinska   +4 more
doaj   +1 more source

Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment [PDF]

, 2021
Maren Freigang, Claudia D. Wurster, Tim Hagenacker, Benjamin Stolte, Markus Weiler, Christoph Kamm, Olivia Schreiber‐Katz, Alma Osmanovic, Susanne Petri, Alexander B. Kowski, Thomas Meyer, Jan Christoph Koch, Isabell Cordts, Marcus Deschauer, Paul Lingor, Elisa Aust, Daniel Petzold, Albert C. Ludolph, Björn Falkenburger, Andreas Hermann, René Günther   +20 more
openalex   +1 more source

Nusinersen treatment and cerebrospinal fluid neurofilaments : An explorative study on Spinal Muscular Atrophy type 3 patients [PDF]

, 2020
The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed.
A. Govoni, D. Gagliardi, D. Ronchi, D. Saccomanno, D. Velardo, E. Abati, E. Calderini, E. Prandi, F. Magri, G. Chidini, G. D&apos, G. Ricci, G. Siciliano, G.P. Comi, I. Faravelli, L. Petrozzi, M. Meneri, N. Bresolin, N. Stocchetti, S. Corti, V. Parente   +20 more
core   +1 more source