Results 111 to 120 of about 7,776 (285)

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy

Children, 2021
The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use.
Meaghann S. Weaver, Alice Yuroff, Sarah Sund, Scott Hetzel, Matthew A. Halanski   +4 more
doaj   +1 more source

Transforming Pediatric Rare Disease Drug Development: Enhancing Clinical Trials and Regulatory Evidence With Virtual Patients

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips, Marco Virgolin, Giuseppe Pasculli, Federico Reali, Alessio Paris, Annette Janus, Yann Godfrin, Daniel Röshammar, Luca Marchetti, Jane Knöchel   +9 more
wiley   +1 more source

Response of plasma microRNAs to nusinersen treatment in patients with SMA

Annals of Clinical and Translational Neurology, 2022
Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response.
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou   +7 more
doaj   +1 more source

Adverse events in the treatment of spinal muscular atrophy in children and adolescents with nusinersen: A systematic review and meta-analysis

Frontiers in Pediatrics, 2023
ObjectivesTo systematically analyze adverse events (AEs) in treatment of spinal muscular atrophy (SMA) with Nusinersen in children and adolescents.MethodsThe study is registered on PROSPERO (CRD42022345589).
Zhi-Juan Zhong, Pi-Mei Zheng, Hui-Hong Dou, Ji-Gan Wang   +3 more
doaj   +1 more source

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

Brain Pathology, EarlyView.
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

Evaluator Training and Reliability for SMA Global Nusinersen Trials

Journal of Neuromuscular Diseases, 2018
Background: Training methodology was established to optimize reliability of outcome measures in the nusinersen clinical trials. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), Hammersmith Functional Motor Scale Expanded (HFMSE), and Revised Upper Limb (RULM) were primary or secondary outcomes.
Glanzman AM, Mazzone, Elena Stacy, Young SD, Gee R, Rose K, Mayhew A, Nelson L, Yun C, Alexander K, Darras BT, Zolkipli-Cunningham Z, Tennekoon G, Day JW, Finkel RS, Mercuri E, De Vivo DC, Baldwin R, Bishop KM, Montes J.   +18 more
openaire   +5 more sources

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

Developmental Medicine &Child Neurology, EarlyView.
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

Evaluation of the Efficacy of Nusinersen Treatment in Patients with Late-onset SMA Using the Hammersmith Functional Motor Scale Expanded

Journal of Behçet Uz Children's Hospital
Objective: Spinal muscular atrophy (SMA) is a hereditary disorder with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide directed against SMN2 and has been shown in studies to improve the motor skills of patients.
Yiğithan Güzin, Ayşe Özbay Yıldız, Bakiye Tunçay, Pınar Gençpınar, Figen Baydan, Nihal Olgaç Dündar   +5 more
doaj   +1 more source

Could choosing risdiplam instead of nusinersen in the treatment of type 1 spinal muscular atrophy be a huge cost-minimization opportunity? [PDF]

Croat Med J
Belančić A, Faour AK, Gkrinia EMM, Vitezić D.   +3 more
europepmc   +2 more sources