Results 51 to 60 of about 2,046 (140)

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

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

RNA-Targeting Splicing Modifiers: Drug Development and Screening Assays [PDF]

, 2021
RNA splicing is an essential step in producing mature messenger RNA (mRNA) and other RNA species. Harnessing RNA splicing modifiers as a new pharmacological modality is promising for the treatment of diseases caused by aberrant splicing.
Boskovic, Zarko V., Pearson, Zach J., Tang, Zhichao, Wang, Jingxin, Zhao, Junxing   +4 more
core   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disease associated with progressive loss of motor function. Risdiplam, a daily oral therapy, was approved in the United States for the treatment of SMA. Risdiplam’s effectiveness depends
Anish Patel, Walter Toro, Min Yang, Wei Song, Raj Desai, Mingchen Ye, Nadia Tabatabaeepour, Omar Dabbous   +7 more
doaj   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study [PDF]

Objective: This study investigated myostatin levels in SMA patients receiving disease-modifying therapies (DMTs) to understand their relationship with treatment duration and functional status.
Abiusi E., Arpaia C., Baroni S., Bravetti C., Capasso A., Cicala G., Coratti G., Falqui S., Fiori S., Mercuri E., Napoli G., Palermo C., Pane M., Pera M. C., Tiziano F. D., Villa M.   +15 more
core   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Non-Invasive Spinal Cord Stimulation for Motor Rehabilitation of Patients with Spinal Muscular Atrophy Treated with Orphan Drugs

Biomedicines
Spinal muscular atrophy (SMA) is an orphan disease characterized by the progressive degeneration of spinal alpha motor neurons. In recent years, nusinersen and several other drugs have been approved for the treatment of this disease.
Anton Novikov, Maria Maldova, Natalia Shamantseva, Ivan Shalmiev, Elena Shoshina, Natalia Epoyan, Natalia Krutikova, Tatiana Moshonkina   +7 more
doaj   +1 more source