Results 21 to 30 of about 1,718 (175)

Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta‐analysis

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2023
AbstractThis systematic review and meta‐analysis aimed to assess the efficacy and safety of risdiplam on motor and respiratory function in spinal muscular atrophy (SMA). We systematically searched Medline, Scopus, Web of Science, and the Cochrane Library from inception to March 2023.
Carlos Pascual‐Morena, Vicente Martínez‐Vizcaíno, Iván Cavero‐Redondo, Irene Martínez‐García, Nerea Moreno‐Herráiz, Celia Álvarez‐Bueno, Alicia Saz‐Lara   +6 more
openaire   +3 more sources

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   +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

Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience [PDF]

Annals of Indian Academy of Neurology
Background and Objectives: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder in children, with an incidence of 1 in 6000–10000 live births. It is characterized by progressive lower motor neuron weakness.
Hafsa, Smilu Mohanlal, PM Mubeena, Aarthi Balaji, S Pramod, Suresh Kumar, Divya Pachat   +6 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

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients

Orphanet Journal of Rare Diseases
Background Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to ...
Gianmarco Severa, Maria del Carmen Alfaro, Christophe Alimi Ichola, Hussein Shoaito, Sarah Souvannanorath, François-Jerôme Authier, Edoardo Malfatti   +6 more
doaj   +2 more sources

Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

BMC Neurology
Background We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +5 more
doaj   +2 more sources

Review of therapeutic options for spinal muscular atrophy [PDF]

Scripta Medica, 2021
Spinal Muscular Atrophy (SMA) is uncommon genetic (autosomal recessive) disease that deteriorates neuromuscular function of the affected person's body by causing lower motor neuron damage, progress in muscle atrophy and in advanced cases leads to ...
Singh Arun, Jain Monica, Kapadia Rupa, Mahawar-Dhirendra Kumar, Kakkar Shivankan, Dadhich Jaya, Chandel-Ritesh Kumar   +6 more
doaj   +1 more source

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls [PDF]

, 2021
BACKGROUND Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein ...
Masson, Riccardo, Zanoteli, E, Khwaja, O, Scalco, Renata S., Xiong, Hui, Vlodavets, Dmitry, Mazurkiewicz-Bełdzińska, Maria, Scalco, Renata S, Roberto De Sanctis, Gorni, K, Servais, Laurent, Gerber, Marianne, Baranello, Giovanni, Rose, K, Scalco, RS, Lorenzo Orazi, Fontoura, Paulo, Kletzl, Heidemarie, Gorni, Ksenija, FIREFISH Working Group, Xiong, H, Claudio Bruno, Gerber, M, Kletzl, H, Stefania Bianchi Marzoli, Ambrosio, Lucia, Vlodavets, D, Darras, Basil T, Baranello, G, Servais, L, El-Khairi, Muna, El-Khairi, M, Marika Pane, Khwaja, Omar, Giulia Maria Amorelli, Wang, Y, Bruno, Claudio, Rose, Kristy, Fontoura, P, Zanoteli, Edmar, Masson, R, Wang, Yi, Maria Carmela Pera, Concetta Palermo, Bruno, C, Eugenio Mercuri, Mazurkiewicz-Bełdzińska, M, Giorgia Coratti, Darras, BT, Darras, Basil T.   +49 more
core   +3 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