Results 61 to 70 of about 1,718 (175)

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.

, 2022
BACKGROUND Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal muscular atrophy.
Masson, Riccardo, Baranello, Giovanni, Deconinck, Nicolas, Bruno, Claudio, Rose, Kristy, Zanoteli, Edmar, Day, John W, Dodman, Angela, Klein, Andrea, Xiong, Hui, Vlodavets, Dmitry, Gaki, Eleni, Mercuri, Eugenio, Wang, Yi, Mazurkiewicz-Bełdzińska, Maria, Fontoura, Paulo, Kletzl, Heidemarie, Darras, Basil T, Jaber, Birgit, El-Khairi, Muna, Gorni, Ksenija, Servais, Laurent   +21 more
core   +1 more source

Atrofia muscular espinal tipo 2 en tratamiento con risdiplam en el Instituto Nacional de Salud del Niño – San Borja: un reporte de caso

Investigación e Innovación Clínica y Quirúrgica Pediátrica
La atrofia muscular espinal (AME) es una enfermedad neuromuscular frecuente en la edad pediátrica caracterizada por la presencia de debilidad muscular progresiva, hipotonía y atrofia muscular simétrica. El tratamiento de la AME en Perú se basa en el uso
Peggy Carol Martínez-Esteban, Richard Christian Morales Brañes, Juan Victor Florez Zamora, Cinthya Tatiana Cornejo Gallegos   +3 more
doaj   +1 more source

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol

BMC Neurology, 2023
Background Hereditary spinal muscular atrophy (SMA) is a motor neuron disorder with a wide range in severity in children and adults. Two therapies that alter splicing of the Survival Motor Neuron 2  (SMN2) gene, i.e.
Leandra A. A. Ros, H. Stephan Goedee, Hessel Franssen, Fay-Lynn Asselman, Bart Bartels, Inge Cuppen, Ruben P. A. van Eijk, Boudewijn T. H. M. Sleutjes, W. Ludo van der Pol, Renske I. Wadman   +9 more
doaj   +1 more source

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 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 ...
Cornell, Nikki, Hughes, Imelda, Baranello, Giovanni, Wraige, Elizabeth, Chow, Gabriel, Spinty, Stefan, Munot, Pinki, Willis, Tracey, Majumdar, Anirban, Ambegaonkar, Gautam, Marini-Bettolo, Chiara, paediatric UK risdiplam EAMS working group, ., Childs, Anne-Marie, Parasuraman, Deepak, Illingworth, Marjorie, Scoto, Mariacristina   +15 more
core   +1 more source

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

Data from: Adverse events associated with risdiplam use

<p>Risdiplam is a new drug for treating spinal muscular atrophy (SMA). However, pharmacovigilance analyses are necessary to objectively evaluate its safety—a crucial step in preventing severe adverse events (AEs). Accordingly, the primary objective
Liu, Limei
core   +1 more source

RNA targeted therapies: Risdiplam for spinal muscolar atrophy treatment

, 2023
reservedRisdiplam è il primo farmaco orale sviluppato per il trattamento dell' atrofia muscolare spinale (SMA) ed è stato approvato nel 2020 dalla Food and Drug Administration (FDA) statunitense per il trattamento di tutti i tipi di SMA in pazienti ...
TARQUINI, CARLO
core  

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  

Newer advances in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Journal of Current Research in Scientific Medicine, 2019
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy.
Mukesh Kumar, Venugopalan Y Vishnu
doaj   +1 more source