Results 1 to 10 of about 2,027 (124)

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study [PDF]

Neurology and Therapy, 2023
Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK ...
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group   +16 more
doaj   +5 more sources

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

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   +2 more sources

Treatment of risdiplam after nusinersen continuously improves upper limb motor function in spinal muscular atrophy patients: a multicenter experience [PDF]

Frontiers in Pediatrics
IntroductionSome individuals with spinal muscular atrophy (SMA) transition from nusinersen to risdiplam during disease-modifying therapy (DMT) due to factors such as treatment convenience, economic considerations, and adverse events (AEs).
Xi Cheng, Yun Ma, Li-Qiang Yu, Ya-Bei Fan, Liang-Hua Zhu, Han-Bing Lu, Qi Niu   +6 more
doaj   +2 more sources

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

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   +2 more sources

Effectiveness and safety of Risdiplam for types 1–3 spinal muscular atrophy in a single center [PDF]

BMC Neurology
Background Risdiplam has demonstrated efficacy in various types of 5q-spinal muscular atrophy (SMA) during clinical trials, yet real-world data remain limited.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li   +6 more
doaj   +2 more sources

A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam [PDF]

Scientific Reports
Real-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up.
Olesja Parmova, Krystof Prasil, Lenka Mokra, Michal Svoboda, Petr Ridzon, Jana Junkerova, Lucia Bakosova, Katarina Okalova, Lenka Jurikova, Miriam Kolnikova, Jana Haberlova   +10 more
doaj   +2 more sources

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union [PDF]

Neurology International
Background/Objectives: The approval of disease-modifying therapies has significantly improved outcomes for patients with spinal muscular atrophy (SMA), yet their long-term safety profiles remain under continuous evaluation.
Andrej Belančić, Petar Mas, Ivana Stević, Dinko Vitezić, Slobodan Janković   +4 more
doaj   +2 more sources

Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review. [PDF]

Orphanet J Rare Dis
BackgroundSpinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, onasemnogene abeparvovec, and ...
Yousefi M, Mehrabian A, Brown A, Butt F, Donoghue J, Parr J, Patel M, Grove A, Parsons J, Auguste P.   +9 more
europepmc   +3 more sources

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

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   +2 more sources

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study [PDF]

Neurology and Therapy
Introduction Risdiplam, an oral splicing modifier for the survival motor neuron-2 gene (SMN2), is approved for treating spinal muscular atrophy (SMA).
Kayoko Saito, Toshio Saito, Reiko Arakawa, Yasuhiro Takeshima, Hisahide Nishio, Yuka Ishikawa, Masahisa Katsuno, Takahiko Tsumuraya, Hiromitsu Kawata, Yuki Miyano, Hirofumi Komaki   +10 more
doaj   +2 more sources