Results 21 to 30 of about 6,290 (252)

Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy

Therapeutic Advances in Neurological Disorders, 2018
Background: Nusinersen is an intrathecally administered antisense oligonucleotide (ASO) and the first approved drug for the treatment of spinal muscular atrophy (SMA).
Benjamin Stolte, Saskia Bolz, Christoph Kleinschnitz   +2 more
exaly   +2 more sources

Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy [PDF]

Scientific Reports
Neuroinflammation is an emerging clinical feature in spinal muscular atrophy (SMA). Characterizing neuroinflammatory cytokines in cerebrospinal fluid (CSF) in SMA and their response to nusinersen is important for identifying new biomarkers and ...
Qiang Zhang, Ying Hong, Chiara Brusa, Mariacristina Scoto, Nikki Cornell, Parth Patel, Giovanni Baranello, Francesco Muntoni, Haiyan Zhou   +8 more
doaj   +2 more sources

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen. [PDF]

Eur J Neurol
Four‐year trajectories of HMFSE‐related motor function in SMA II and III patients treatment with nusinersen. ABSTRACT Background The aim of this international retrospective study was to assess 4‐year change using the Hammersmith Functional Motor Scale Expanded (HFMSE) in individuals with type II and III spinal muscular atrophy (SMA) treated with ...
Coratti G, Bovis F, Pane M, Pasternak A, Albamonte E, Mizzoni I, Glanzman AM, Morando S, Montes J, Cavallina I, Dunaway Young S, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Pera MC, Messina S, D'Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel RS, Mercuri E, iSMAC/international SMA consortium.   +34 more
europepmc   +2 more sources

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy [PDF]

New England Journal of Medicine, 2018
Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga   +2 more
exaly   +2 more sources

Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach [PDF]

, 2019
Bergui, M., Bortolani, S., Mongini, T., Ricci, F., Rolle, E., Stura, G., Ventilii, G., Vercelli, L.   +7 more
core   +2 more sources

History of development of the life-saving drug “Nusinersen” in spinal muscular atrophy

Frontiers in Cellular Neuroscience, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with an incidence of 1/6,000–1/10,000 and is the leading fatal disease among infants. Previously, there was no effective treatment for SMA.
Jiaying Qiu, Jiaying Qiu, Liucheng Wu, Ruobing Qu, Tao Jiang, Jialin Bai, Lei Sheng, Pengchao Feng, Junjie Sun   +8 more
doaj   +1 more source

Do we always need to treat patients with spinal muscular atrophy? A personal view and experience

Orphanet Journal of Rare Diseases, 2021
Background We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al.
Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo, Franca Benini   +7 more
doaj   +1 more source

Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

Frontiers in Neurology, 2022
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an
Beiyu Xu, Cuijie Wei, Xiao Hu, Wenzhu Li, Zhen Huang, Chengli Que, Jianxing Qiu, Chunde Li, Hui Xiong   +8 more
doaj   +1 more source

Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model [PDF]

, 2022
Background: Nusinersen is approved for the treatment of spinal muscular atrophy. The most common approved dosing regimen is four intrathecal loading doses of nusinersen 12 mg; the first three are administered at 14-day intervals followed by a fourth dose
Berger, Zdenek, Farrar, Michelle A, Finkel, Richard S, Iannaccone, Susan T, Kirschner, Janbernd, Kuntz, Nancy L, MacCannell, Drew, Mercuri, Eugenio, Muntoni, Francesco, Valente, Marta   +9 more
core   +1 more source

Long-Term Effects of Nusinersen Combined Physiotherapy in Spinal Muscular Atrophy Type 1: A Case Study

Journal of Behçet Uz Children's Hospital, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is characterized by generalized muscle weakness. Any study does not exist showing the results of Nusinersen and physiotherapy in SMA type 1.
Güllü Aydın Yağcıoğlu, Numan Bulut, Fatma Uğur, İpek Alemdaroğlu Gürbüz, A. Ayşe Karaduman, Öznur Yılmaz   +5 more
doaj   +1 more source