Results 41 to 50 of about 6,101 (249)

Is cerebrospinal fluid amyloid-β42 a promising biomarker of response to nusinersen in adult spinal muscular atrophy patients? [PDF]

, 2021
Introduction: Nusinersen was approved as the first treatment for all types of spinal muscular atrophy (SMA), including adults with SMA types 2 and 3. Robust biomarkers of treatment response in SMA adults are lacking.
D'Errico E., Fraddosio A., Introna A., Milella G., Ruggieri M., Scaglione G., Simone I. L., Ucci M.   +7 more
core   +1 more source

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children, 2021
Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity.
Minsu Gu, Hyun-Ho Kong
doaj   +1 more source

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification [PDF]

, 2023
Spinal muscular atrophyAtròfia muscular espinalAtrofia muscular espinalWe sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios.
De Vivo, Darryl, Finkel, Richard, Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Proud, Crystal M., TIZZANO, EDUARDO F.   +6 more
core   +4 more sources

An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER)

Journal of Market Access & Health Policy, 2021
Background: Recent cost-utility analysis (CUA) models for onasemnogene abeparvovec (Zolgensma®, formerly AVXS-101) in spinal muscular atrophy type 1 (SMA1) differ on key assumptions and results.
Rebecca Dean, Ivar Jensen, Phil Cyr, Beckley Miller, Benit Maru, Douglas M. Sproule, Douglas E. Feltner, Thomas Wiesner, Daniel C. Malone, Matthias Bischof, Walter Toro, Omar Dabbous   +11 more
doaj   +1 more source

Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen [PDF]

, 2022
Aim: To assess the evolution of bulbar function in nusinersen-treated spinal muscular atrophy type 1 (SMA1). Method: This single-centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 ...
Baranello, Giovanni, Conway, Eleanor, Johnson, Emily, Muntoni, Francesco, Scoto, Mariacristina, Stewart, Alexandra, Stimpson, Georgia, Thomas, Lily, Weststrate, Harriet   +8 more
core   +1 more source

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland [PDF]

, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, and language development of SMA patients treated ...
Baumann, Dominique, Enzmann, Cornelia, Hasselmann, Oswald, Jacquier, David, Jung, Hans H, Klein, Andrea, Kruijshaar, Michelle E, Kuehni, Claudia E, Neuwirth, Christoph, Rüsch, Christina T, Stettner, Georg M, Tscherter, Anne   +11 more
core   +4 more sources

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

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   +1 more source

Spinal muscular atrophy 5Q – Treatment with nusinersen [PDF]

Revista da Associação Médica Brasileira, 2018
The Guidelines Project, an initiative of the Brazilian Medical Association, aims to combine information from the medical field in order to standardize producers to assist the reasoning and decision-making of doctors. The information provided through this project must be assessed and criticized by the physician responsible for the conduct that will be ...
Antonio Silvinato, Wanderley M Bernardo
openaire   +5 more sources