Results 31 to 40 of about 3,114 (145)

Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study

Orphanet Journal of Rare Diseases, 2023
Background As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime.
Zhen Wang, Erwei Feng, Yang Jiao, Junduo Zhao, Xin Chen, Haozhi Zhang, Jinqian Liang, Zheng Li, Xulei Cui, Weiyun Chen, Jianxiong Shen   +10 more
doaj   +1 more source

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients

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   +1 more source

Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients

Journal of Market Access & Health Policy, 2019
Background: Spinal muscular atrophy type 1 (SMA1) is a devastating genetic disease for which gene-replacement therapy may bring substantial survival and quality of life benefits.
Daniel C. Malone, Rebecca Dean, Ramesh Arjunji, Ivar Jensen, Phil Cyr, Beckley Miller, Benit Maru, Douglas M. Sproule, Douglas E. Feltner, Omar Dabbous   +9 more
doaj   +1 more source

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Brain Sciences, 2021
The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and ...
Svenja Brakemeier, Benjamin Stolte, Andreas Thimm, Kathrin Kizina, Andreas Totzeck, Juan Munoz-Rosales, Christoph Kleinschnitz, Tim Hagenacker   +7 more
doaj   +1 more source

Response of plasma microRNAs to nusinersen treatment in patients with SMA

Annals of Clinical and Translational Neurology, 2022
Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response.
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou   +7 more
doaj   +1 more source

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   +1 more source

Neuid: A Novel Neuron‐Enriched LncRNA that Connects Epigenetic Gene Silencing to Alzheimer's Disease

Advanced Science, EarlyView.
ABSTRACT The increasing evidence that non‐coding RNAs can become deregulated during pathogenesis is dramatically expanding the space for drug discovery beyond the protein‐coding genome. Long noncoding RNAs (lncRNAs) are emerging as key regulators of cellular function, yet most remain uncharacterized.
Ranjit Pradhan, Zorica Petrovic, M. Sadman Sakib, Sophie Schröder, Dennis Manfred Krüger, Tonatiuh Pena, Eren Diniz, Susanne Burkhardt, Anna‐Lena Schütz, Verena Gisa, Iga Grzadzielewska, Karl Toischer, Thor D. Stein, Jan Krzysztof Blusztajn, Ivana Delalle, Jelena Radulovic, Farahnaz Sananbenesi, Andre Fischer   +17 more
wiley   +1 more source

Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2021
Background Studies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) are sparse.
Maren Freigang, Petra Steinacker, Claudia Diana Wurster, Olivia Schreiber-Katz, Alma Osmanovic, Susanne Petri, Jan Christoph Koch, Kevin Rostásy, Björn Falkenburger, Albert Christian Ludolph, Markus Otto, Andreas Hermann, René Günther   +12 more
doaj   +1 more source

Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy

Children, 2021
The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use.
Meaghann S. Weaver, Alice Yuroff, Sarah Sund, Scott Hetzel, Matthew A. Halanski   +4 more
doaj   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source