Results 91 to 100 of about 3,107 (205)

Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy. [PDF]

Background and Objective Untreated spinal muscular atrophy (SMA) is the leading genetic cause of death in children younger than 2 years of age. Early detection through newborn screening allows for presymptomatic diagnosis and treatment of SMA.
Bischof M, Ghetti G, Marcellusi A, Mennini FS, Pane M., Pistillo GM   +5 more
core   +1 more source

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

Economic evaluations of disease-modifying therapies for spinal muscular atrophy:a systematic literature review [PDF]

BackgroundSpinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, onasemnogene abeparvovec, and ...
Auguste, Peter, Brown, Anna, Butt, Furqan, Donoghue, Jeremiah, Grove, Amy, Mehrabian, Amin, Parr, Janette, Parsons, Jo, Patel, Mubarak, Yousefi, Mehdi   +9 more
core   +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

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy [PDF]

, 2023
Rémi Barrois, Christine Barnérias, E. Deladrière, V. Leloup-Germa, Brian Tervil, Frédérique Audic, C. Boulay, Claude Cancés, Pascal Cintas, Jean‐Baptiste Davion, Caroline Espil‐Taris, V. Manel, Yann Péréon, Julie Piarroux, S Roy, C. Vuillerot, Ulrike Walther‐Louvier, Isabelle Desguerre, Cyril Gitiaux   +18 more
openalex   +1 more source

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine &Child Neurology, Volume 67, Issue 12, Page 1590-1600, December 2025.
Abstract Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the 2‐year change in the Children's Eating and Drinking Ability Scale (CEDAS) (the revised and optimized ...
Georgia Stimpson, Lavinia Fanelli, Eleanor Conway, Emily Johnson, Beatrice Berti, Mariacristina Scoto, Francesco Muntoni, Eugenio Mercuri, Giovanni Baranello, the p‐FOIS/CEDAS and OrSAT Working Group, Nikki Cornell, Giulia Stanca, Giorgia Coratti, Marika Pane   +13 more
wiley   +1 more source

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

Health Expectations, Volume 28, Issue 6, December 2025.
ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon   +13 more
wiley   +1 more source

Onasemnogene Abeparvovec (Zolgensma)

Canadian Journal of Health Technologies, 2021
In the March 2021, the CADTH Canadian Drug Expert Committee recommended that onasemnogene abeparvovec be reimbursed for the treatment of pediatric patients with 5q spinal muscular atrophy (SMA) with biallelic mutations in the survival motor neuron 1 (SMN1) gene, if certain conditions were met.
openaire   +2 more sources

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, Volume 599, Issue 21, Page 3086-3102, November 2025.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy

Brain Pathology, Volume 35, Issue 6, November 2025.
Purkinje cell (PC) degeneration is localized to posterior lobules in the cerebellum, and rescue of survival motor neuron protein expression levels in motor neurons does not ameliorate this effect. Representative images of sagittal cerebellar sections stained with anti‐calbindin in the vermis and hemisphere at P12 for wild type, ChATCre+ rescue (Rescue),
Nicholas C. Cottam, Morgan Dowling, Lingling Kong, Michelle Harran Chan‐Cortés, Christine J. Charvet, Naika Norzeron, Cameron Grover, Melissa A. Harrington, Charlotte J. Sumner, Jianli Sun   +9 more
wiley   +1 more source