Results 11 to 20 of about 2,169 (197)

Risdiplam for the Use of Spinal Muscular Atrophy [PDF]

Orthopedic Reviews, 2021
Spinal muscular atrophy (SMA) is one of the leading causes of death in infants related to the degeneration of neurons. Currently, there are no curative treatment options for SMA, and many options available may not be feasible. This review presents the background, clinical studies, and indications for the use of Risdiplam in treating SMA.
Juyeon, Kakazu, Nakoma L, Walker, Katherine Claire, Babin, Katherine A, Trettin, Christopher, Lee, Patricia B, Sutker, Adam M, Kaye, Alan D, Kaye   +7 more
openaire   +5 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

Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy [PDF]

Frontiers in Neurology
IntroductionRisdiplam has been shown to be safe, well tolerated, and improves or stabilizes motor function in individuals with SMA, but limited published data exists for adults.
Andrea Jaworek, Kathryn Jira, Matti Allen, Songzhu Zhao, Kristina Kelly, Trevor Moravec, Marco Tellez, Sarah Heintzman, Jerold Reynolds, Gary Sterling, Stephen J. Kolb, William David Arnold, Bakri Elsheikh   +12 more
doaj   +2 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

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Sun L, Leow DMK, Wang LC, Eio MY, Koh HWL, Khong ZJ, Narayanan G, Teo AKS, Giadone R, Sobota RM, Ng SY, Teo AKK, Ong WY, Rubin LL, Darras BT, Yeo CJJ.   +15 more
europepmc   +2 more sources

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study. [PDF]

Muscle Nerve
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
Sun R, Wang J, Han J, Jiang J, Wu J, Chen X, Deng X, Cai C, Sun D.   +8 more
europepmc   +2 more sources

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review [PDF]

Annals of Clinical and Translational Neurology
Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
doaj   +2 more sources

Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening [PDF]

Children
Risdiplam is an orally administered small molecule that modifies the mRNA splicing of SMN2 for the treatment of spinal muscular atrophy (SMA). Its use is approved in presymptomatic patients diagnosed by neonatal screening with early and severe forms with
Inmaculada Pitarch-Castellano, Nancy Carolina Ñungo-Garzón, Karolina Aragon-Gawińska, Eugenia Ibáñez-Albert, Juan F. Vázquez-Costa, Teresa Sevilla   +5 more
doaj   +2 more sources

Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience [PDF]

Annals of Indian Academy of Neurology
Background and Objectives: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder that leads to anterior horn cell loss. Recent advancements in disease-modifying therapies (DMTs) offer promising new treatment options.
Smilu Mohanlal, PM Mubeena, Hafsa Hussain, Manjula Anand, Satish Kumar, VV Ashraf, Tajimal A Rabia, Sujith Janardhanan, Suresh Kumar   +8 more
doaj   +2 more sources

Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases
Background As the latest drug available for the treatment of spinal muscular atrophy (SMA), real-world research data on risdiplam are still lacking. The purpose of this study was to supplement the real-world data in SMA children receiving risdiplam by ...
Yue Yan, Danhui Zhu, Kai Ma, Xufeng Luo, Xiaoli Zhang, Xiaolong Deng, Mei Lu, Yang Li, Jianwei Li, Feng Gao, Shanshan Mao   +10 more
doaj   +2 more sources