Results 11 to 20 of about 2,046 (140)

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   +3 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

Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy. [PDF]

JCI Insight
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of survival motor neuron (SMN) protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms.
Genovese F, Huang YT, Motyl AA, Paganin M, Sharma G, Signoria I, Donzel D, Lai NC, Pronot M, Kline RA, Chaytow H, Morris KJ, Faller KM, Wishart TM, Groen EJ, Cousin MA, Viero G, Gillingwater TH.   +17 more
europepmc   +3 more sources

A Convenient, Pd-Free Approach to the Synthesis of Risdiplam [PDF]

Molecules
Several approaches to the synthesis of risdiplam, a pharmacologically relevant pyridopyrimidinone derivative, have been recently reported. However, most of these routes rely exclusively on palladium-catalyzed, cross-coupling reactions and involve low ...
Georgiy Korenev, Alexey A. Gutenev, Fyodor V. Antipin, Vladimir V. Chernyshov, Julia A. Shulgina, Maria P. Korobkina, Maxim B. Nawrozkij, Roman A. Ivanov   +7 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

A Brand-New Metal Complex Catalyst-Free Approach to the Synthesis of 2,8-Dimethylimidazo[1,2-b]pyridazine-6-Carboxylic Acid—A Key Intermediate in Risdiplam Manufacturing Process [PDF]

Molecules
In this study, we report for the first time a brand-new protocol for the multigram-scale synthesis of 5-methyl-6-oxo-1,6-dihydropyridazine-3-carboxylic and 2,8-dimethylimidazo[1,2-b]pyridazine-6-carboxylic acids, without the utilization of metal-complex ...
Georgiy Korenev, Alexey A. Gutenev, Fyodor V. Antipin, Vladimir V. Chernyshov, Maria P. Korobkina, Maxim B. Nawrozkij, Roman A. Ivanov   +6 more
doaj   +2 more sources

Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy. [PDF]

Eur J Health Econ
ObjectiveWe assessed the cost effectiveness of onasemnogene abeparvovec (OA) for presymptomatic infants with two or three copies of the survival motor neuron 2 (SMN2) gene (diagnosed/treated <= 6 weeks old) who lack functional SMN1 gene (biallelic ...
Valentini I, Ghetti G, Pane M, Rumi F, Di Brino E, Basile M, Pistillo GM, Bischof M.   +7 more
europepmc   +3 more sources

Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2 [PDF]

Biomedicines
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. The past decade has witnessed a paradigm shift in SMA management with the advent of disease-modifying drugs (DMDs).
Andrej Belančić, Patrick Castillo Eustaquio, Elvira Meni Maria Gkrinia, Valentino Rački, Kristina Pilipović, Dinko Vitezić   +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

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies [PDF]

Biology
Since its discovery in the late 19th century, spinal muscular atrophy (SMA) has had a significant medical and societal impact, primarily affecting newborns, toddlers, and young adults.
Arianna Vezzoli, Daniele Bottai, Raffaella Adami   +2 more
doaj   +2 more sources