Results 71 to 80 of about 1,977 (181)

Atrofia muscular espinal tipo 2 en tratamiento con risdiplam en el Instituto Nacional de Salud del Niño – San Borja: un reporte de caso

Investigación e Innovación Clínica y Quirúrgica Pediátrica
La atrofia muscular espinal (AME) es una enfermedad neuromuscular frecuente en la edad pediátrica caracterizada por la presencia de debilidad muscular progresiva, hipotonía y atrofia muscular simétrica. El tratamiento de la AME en Perú se basa en el uso
Peggy Carol Martínez-Esteban, Richard Christian Morales Brañes, Juan Victor Florez Zamora, Cinthya Tatiana Cornejo Gallegos   +3 more
doaj   +1 more source

RNA targeted therapies: Risdiplam for spinal muscolar atrophy treatment

, 2023
reservedRisdiplam è il primo farmaco orale sviluppato per il trattamento dell' atrofia muscolare spinale (SMA) ed è stato approvato nel 2020 dalla Food and Drug Administration (FDA) statunitense per il trattamento di tutti i tipi di SMA in pazienti ...
TARQUINI, CARLO
core  

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

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   +1 more source

Specificity, synergy, and mechanisms of splice-modifying drugs

Nature Communications
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we introduce mechanistically interpretable quantitative models for the sequence-specific and concentration ...
Yuma Ishigami, Mandy S. Wong, Carlos Martí-Gómez, Andalus Ayaz, Mahdi Kooshkbaghi, Sonya M. Hanson, David M. McCandlish, Adrian R. Krainer, Justin B. Kinney   +8 more
doaj   +1 more source

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

International Journal of General Medicine, 2022
Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Children’s Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsylvania ...
Ramos-Platt L, Elman L, Shieh PB
doaj  

Newer advances in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Journal of Current Research in Scientific Medicine, 2019
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy.
Mukesh Kumar, Venugopalan Y Vishnu
doaj   +1 more source

Spinal muscular atrophy as a blueprint for precision therapy in neuromuscular disease

Expert Reviews in Molecular Medicine
Background Spinal Muscular Atrophy (SMA) is caused by a deficiency of the survival motor neuron (SMN) protein due to loss of SMN1 and inefficient compensation by SMN2. This genetic architecture has driven the development of precision therapeutics.
Busra Cetin, Melike Aliciaslan, Ezgi Erbasan, Busra Cesur Ergun, Salih Sanlioglu   +4 more
doaj   +1 more source

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Therapeutics and Clinical Risk Management, 2019
Tamara Dangouloff,1 Laurent Servais1,2 1Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium ...
Dangouloff T, Servais L
doaj  

Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin^® and the Reference Drug Evrysdi^®

Biomedicines
Background/Objectives: Risdiplam is a low-molecular-weight small-molecule modifier of SMN2 pre-mRNA splicing that was developed for spinal muscular atrophy (SMA) therapy and approved for the treatment of SMA as Evrysdi® (Roche, Basel, Switzerland ...
Olga Strizhakova, Andrei Pershin, Yana Bahareva, Aleksandr Kazarov, Ivan Lyagoskin, Evgenia Bocharova, Roman Anisimov, Yury Gladchenko, Natalia Kholod, Inessa Kirik, Anna Gudilina, Rakhim Shukurov, Ravil Khamitov   +12 more
doaj   +1 more source

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

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   +1 more source