Results 31 to 40 of about 1,977 (181)

Pharmacological Therapies of Spinal Muscular Atrophy: A Narrative Review of Preclinical, Clinical–Experimental, and Real-World Evidence

Brain Sciences, 2023
Spinal muscular atrophy (SMA) is a rare neuromuscular disease, with an estimated incidence of about 1 in 10,000 live births. To date, three orphan drugs have been approved for the treatment of SMA: nusinersen, onasemnogene abeparvovec, and risdiplam. The
Salvatore Crisafulli, Brigida Boccanegra, Giacomo Vitturi, Gianluca Trifirò, Annamaria De Luca   +4 more
doaj   +1 more source

Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs

Frontiers in Neurology, 2022
Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of the disease, type 1, typically results in death or chronic respiratory failure in the first 2 years of ...
Carmen Leon-Astudillo, Barry J. Byrne, Ramzi G. Salloum   +2 more
doaj   +1 more source

Risdiplam (Evrysdi)

Canadian Journal of Health Technologies, 2021
CADTH recommends that Evrysdi should be reimbursed by public drug plans for the treatment of spinal muscular atrophy (SMA) in patients aged 2 months and older, if certain conditions are met. Evrysdi should only be reimbursed if the patient is under the care of a specialist with experience in the diagnosis and management of SMA, it is not ...
openaire   +3 more sources

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

Summary of Research: Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series

Neurology and Therapy
This Summary of Research summarizes a previously published original article, “Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series.” Risdiplam (EVRYSDI®) is a medication approved for the treatment ...
Shelley Coskery, Marcus Erdler, Margaret R. Frey, Michael A. Lopez   +3 more
doaj   +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

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

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