Results 11 to 20 of about 4,580 (188)

Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen [PDF]

Therapeutic Advances in Neurological Disorders, 2020
Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children.
Elisabeth Jochmann, Robert Steinbach, Thomas Jochmann, Ha-Yeun Chung, Annekathrin Rödiger, Rotraud Neumann, Thomas E. Mayer, Klaus Kirchhof, Dana Loudovici-Krug, Ulrich C. Smolenski, Otto W. Witte, Julian Grosskreutz   +11 more
doaj   +2 more sources

Nusinersen for SMA: expanded access programme [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2018
BackgroundSpinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.MethodsAn ...
Farrar, MA, Teoh, HL, Carey, KA, Cairns, A, Forbes, R, Herbert, K, Holland, S, Jones, KJ, Menezes, MP, Morrison, M, Munro, K, Villano, D, Webster, R, Woodcock, IR, Yiu, EM, Sampaio, H, Ryan, MM   +16 more
core   +8 more sources

Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective review [PDF]

BMJ Paediatrics Open, 2019
Background Nusinersen has been used to treat spinal muscular atrophy type 1 (SMA1) in the UK since 2017. While initial trials showed neuromuscular benefit from treating SMA1, there is little information on the respiratory effects of nusinersen.
Francis J Gilchrist, William D Carroll, Tracey Willis, Martin Samuels, Imran Ali, John Alexander, Sadie Clayton, Richa Kulshrestha   +7 more
doaj   +2 more sources

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

Neurology International
Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...
Asma AlTawari, Mohammad Zakaria, Walaa A. Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanany, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki   +12 more
doaj   +2 more sources

Nusinersen for adults with spinal muscular atrophy

Neurological Sciences, 2023
Nusinersen was effective in improving motor function and survival in infantile and childhood-onset spinal muscular atrophy (SMA), and the value of real-world experiences in adult SMA patients increase gradually. Here, we present our clinical experience in adult SMA patients treated with nusinersen according to CHERISH study.Thirty-two SMA patients ...
Doruk Arslan, Berin Inan, Muhammed Kilinc, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Ersin Tan   +5 more
openaire   +4 more sources

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

Brain Sciences, 2021
The antisense oligonucleotide nusinersen was the first drug treatment available for all types of 5q-spinal muscular atrophy (SMA). The dosing regime has been derived from pivotal clinical trials in infants and children.
Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +2 more
doaj   +2 more sources

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients [PDF]

Communications Medicine, 2023
Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment.
Tommaso Nuzzo, Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta, Amber Hassan, Michele Tosi, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Angela Chambery, Livio Pellizzoni, Alessandro Usiello   +13 more
doaj   +3 more sources

Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen

BMC Pediatrics
Background Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder that can be treated with intrathecal nusinersen, an antisense oligonucleotide.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li   +6 more
doaj   +2 more sources

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study. [PDF]

Clin Genet
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Batista EC, Zanoteli E, Fonseca HAR, Polido GJ, Saute JAM, Ortega AB, Junior MCF, Oliveira ASB, de Souza PVS, Giannetti JG, Pessoa ALS, de Queiroz Campos Araújo AP, Neves MFT, da Silva RTB, Monfardini F, Dos Santos GP, Dos Santos Sampaio B, Moia DF, Júnior FG, de Piano LPA, de Albuquerque CSN, Duarte FM, Aparecida Rodrigues Sant'Anna V, Pereira M, de Bortoli Livramento J, Vicente Pereira Soares R, Pedrosa DA, Teich V, Rizzo LV, Berwanger O, de Andrade JBC, Silva GS.   +31 more
europepmc   +2 more sources

Impact of Intermittent Positive Pressure Breathing on Thoracic Growth in Children With Type 1 Spinal Muscular Atrophy. [PDF]

Pediatr Pulmonol
ABSTRACT Introduction The emergence of new disease‐modifying treatments for type I spinal muscular atrophy (SMA I) has led to a paradigm shift in the respiratory management of these patients. Accompanying pulmonary and thoracic growth appears to be a key factor in their morbidity and mortality. The role of Intermittent Positive Pressure Breathing (IPPB)
Thébault C, Denamur S, Thomas G, Barzic A, Schwartz E, Dupuis M, Nougues MC, Isapof A, Aubertin G, Taytard J.   +9 more
europepmc   +2 more sources