Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
International Journal of General Medicine, 2022 Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Children’s Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsylvania ...
Ramos-Platt L, Elman L, Shieh PB
doaj
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 +2 more
wiley +1 more source
Newborn screening for spinal muscular atrophy: Variations in practice and early management of infants with spinal muscular atrophy in the United States [PDF]
In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA ...
Crockett, Cameron D +4 more
core +2 more sources
MedComm, Volume 6, Issue 12, December 2025.Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu +5 more
wiley +1 more source
Treatment strategies for patients with spinal muscular atrophy [PDF]
peer ...
De Waele, Liesbeth, Servais, Laurent
core +2 more sources
Formation of Fused Ring Junction N-Heterocycles via Cp*Rh(III) Imidoyl C–H Activation and Application to RNA Targeting [PDF]
, 2022 Nitrogen heterocycles are present in almost two-thirds of U.S. FDA approved pharmaceuticals, garnering interest in the ability to rapidly access these structures displaying different functional groups.
Streit, Andrew Douglas
core +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 +13 more
wiley +1 more source
Motor Unit Patterns Correlate With Severity in Symptomatic Patients With Spinal Muscular Atrophy
European Journal of Neurology, Volume 32, Issue 12, December 2025.We systematically evaluated motor unit and neuromuscular junction (NMJ) function in 104 genetically confirmed patients with spinal muscular atrophy (SMA) types 1–4, compared to 65 healthy controls. Patients showed severe motor unit loss with enlarged motor units, resulting in distinct patterns that reflected SMA severity independent of age or disease ...
Leandra A. A. Ros +10 more
wiley +1 more source
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain [PDF]
BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and function in the ...
Ambegaonkar, Gautam +15 more
core
Spinal Muscular Atrophy Cases and Therapeutic Pathways in Cities in Western Libya [PDF]
Autosomal recessive mutations in the survival motor neuron1 (SMN1) gene cause spinal muscular atrophy (SMA), which ischaracterized by increasing muscle weakening and motor neuron loss. It is important to diagnose the disease and starttreatment procedures
Ali, Fatima +5 more
core +2 more sources