Results 21 to 30 of about 3,114 (145)

Treatment with nusinersen in a girl with spinal muscular atrophy type 1 - Case report

Zdravniški Vestnik, 2020
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these patients.
Tanja Loboda, Tita Butenko, Tanja Golli, Damjan Osredkar   +3 more
doaj   +1 more source

Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study

Orphanet Journal of Rare Diseases, 2021
Background This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.
Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang, Shuyang Zhang   +5 more
doaj   +1 more source

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

Implications of circulating neurofilamentsfor spinal muscular atrophytreatment early in life: A case series

Molecular Therapy: Methods & Clinical Development, 2021
This longitudinal cohort study aimed to determine whether circulating neurofilaments (NFs) can monitor response to molecular therapies in newborns with spinal muscular atrophy (SMA; NCT02831296).
Christiano R.R. Alves, Marco Petrillo, Rebecca Spellman, Reid Garner, Ren Zhang, Michael Kiefer, Sarah Simeone, Jihee Sohn, Eric J. Eichelberger, Emma Rodrigues, Elizabeth A. Arruda, Elise L. Townsend, Wildon Farwell, Kathryn J. Swoboda   +13 more
doaj   +1 more source

Nusinersen in spinal muscular atrophy: Respiratory outcomes at tertiary care centers

Journal of Nature and Science of Medicine, 2020
Objectives: The objective of the study wasto describe the effect of nusinersen therapy and its 1st-year associated outcomes, weaning of ventilator support, and length of stay in pediatric intensive care among ventilator-dependent spinal muscular atrophy (
Fahad Alsohime, Mohamad-Hani Temsah, Muneera Al-Jelaify, Hind Ali Bafaqih, Kamal El Masri, Ahmed Abusibah, Ayman Al-Eyadhy, Gamal Hasan, Ali Alhaboob, Majed Alabdulhafid, Mohammed Abdulrahman Almazyad, Abdulaziz Alghamdi, Fahad A Bashiri   +12 more
doaj   +1 more source

Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients

Brain Sciences, 2021
Approval of nusinersen, an intrathecally administered antisense oligonucleotide, for the treatment of 5q-spinal muscular atrophy (SMA) marked the beginning of a new therapeutic era in neurological diseases.
Lars Hendrik Müschen, Alma Osmanovic, Camilla Binz, Konstantin F. Jendretzky, Gresa Ranxha, Paul Bronzlik, Omar Abu-Fares, Flavia Wiehler, Nora Möhn, Martin W. Hümmert, Stefan Gingele, Friedrich Götz, Martin Stangel, Thomas Skripuletz, Olivia Schreiber-Katz, Susanne Petri   +15 more
doaj   +1 more source

Comparison of Nusinersen and Evrysdi in the Treatment of Spinal Muscular Atrophy [PDF]

E3S Web of Conferences, 2021
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that commonly affects children, and usually worsens with age that often leads to permanent disability and death for many of the SMA patients.
Zhu Xiaoying
doaj   +1 more source

Proxy-Reported Quality of Life and Access to Nusinersen Among Patients with Spinal Muscular Atrophy in Saudi Arabia

Patient Preference and Adherence, 2021
Yazed AlRuthia,1,2 Ghadah S Almuaythir,1 Hala H Alrasheed,1 Wejdan R Alsharif,1 Mohamad-Hani Temsah,3,4 Fahad Alsohime,3,4 Ibrahim Sales,1 Monira Alwhaibi,1 Fahad A Bashiri3,5 1Department of Clinical Pharmacy, College of Pharmacy, King Saud University ...
AlRuthia Y, Almuaythir GS, H Alrasheed H, Alsharif WR, Temsah MH, Alsohime F, Sales I, Alwhaibi M, Bashiri FA   +8 more
doaj  

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study

BMC Neurology, 2023
Background Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course.
Hua Yang, Qiuji Tao, Dan Li, Jie Yang, Qianyun Cai, Jing Gan, Shaoping Huang, Rong Luo   +7 more
doaj   +1 more source

Clinical experience of nusinersen in a broad spectrum of spinal muscular atrophy: A retrospective study

Annals of Indian Academy of Neurology, 2020
Background: Nusinersen has recently been approved and more widely used as first-line treatment of spinal muscular atrophy (SMA). This study aimed to evaluate the real-world experience of nusinersen use for patients with a broad spectrum of SMA.
Ae Ryoung Kim, Jong-Mok Lee, Yu-Sun Min, Hoseok Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, Yun Jeong Lee   +7 more
doaj   +1 more source