Results 31 to 40 of about 2,012 (138)

Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
This Summary of Research summarizes a previously published original article, Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series.
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +2 more sources

INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY [PDF]

Romanian Journal of Pediatrics, 2021
Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy.
Elena-Silvia Shelby, Andrada Mirea
doaj   +1 more source

Exploration of adverse events associated with risdiplam use: Retrospective cases from the US Food and Drug Administration Adverse Event Reporting System (FAERS) database.

PLoS ONE
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).
Lurong Yu, Limei Liu
doaj   +1 more source

Comprehensive Risdiplam Synthesis Overview: From Cross-Coupling Reliance to Complete Palladium Independence

Molecules
Risdiplam is the first approved small-molecule therapy for spinal muscular atrophy (SMA), a severe, progressive neuromuscular disorder. In addition to its clinical significance, risdiplam is of a great interest for organic and medicinal chemistry due to ...
Georgiy Korenev, Maxim B. Nawrozkij, Roman A. Ivanov   +2 more
doaj   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series

BMC Neurology
Background Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival of motor neuron (SMN) 1 gene resulting in progressive motor function loss, and additional disease-related complications, including dysphagia and respiratory ...
Melissa D. Svoboda, Nancy Kuntz, Carmen Leon-Astudillo, Barry J. Byrne, Jena Krueger, Jennifer M. Kwon, Cory Sieburg, Diana Castro   +7 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

185 JEWELFISH: Safety, pharmacodynamic and exploratory efficacy data in non-naïve patients with SMA receiving risdiplam

, 2022
Risdiplam (EVRYSDI®) is an oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved by the EMA and MHRA for the treatment of patients aged ≥2 months, with a clinical diagnosis of Type 1, 2 or 3 spinal muscular atrophy (SMA) or 1–4 SMN2 ...
Claudio Bruno, Fischer, Dirk, Imogen Carruthers, Francis Warren, Bruno, Claudio, Chiriboga, Claudia A., Heidemarie Kletzl, Marianne Gerber, Warren, Francis, Mercuri, Eugenio, Claudia Chiriboga, Janbernd Kirschner, Kletzl, Heidemarie, null null, Dirk Fischer, Mariacristina Scoto, Eugenio Mercuri, Kirschner, Janbernd, Scoto, Mariacristina, Carruthers, Imogen, Gerber, Marianne   +20 more
core   +1 more source

A Comprehensive 19F NMR Framework for Fragment‐Based Drug Discovery: The Validated Screening Library OpenFL600 and Efficient Affinity Ranking by CSAR

Angewandte Chemie, Volume 138, Issue 39, 21 September 2026.
NMR screening is a powerful method for hit detection in drug‐discovery. We designed and validated the OpenFL600 19F$^{19}{\rm F}$ NMR library to probe diverse targets, including RNA, GPCRs, kinases, and proteases. This library yields target‐specific ligands without generating promiscuous binders.
Simon H. Rüdisser, Gabriela Stadler, Giacomo Padroni, Daria Barbash, Marco M. Ruckstuhl, Nils Lorz, Christina Jordan, Sarah Skibinski, Timo T. Stühlinger, Sarah E. Kratzwald, Katharina M. Siess, Sven Brüschweiler, Gerald Platzer, Antoine Cléry, Robert Konrat, Frédéric H.‐.T. Allain, Alvar D. Gossert   +16 more
wiley   +2 more sources