Results 51 to 60 of about 6,290 (252)

Clinical and economic assessment of nusinersen: the Bulgarian perspective

Expert Opinion on Orphan Drugs, 2020
Spinal muscular atrophy (SMA) is a very serious debilitating rare condition mainly affecting newborns and infants. The aim of current chapter is to present the standard of care and treatment available in Bulgaria from both clinical and economic point of view.
Maria Stefanova Kamusheva, Maria Jordanova Dimitrova   +1 more
openaire   +2 more sources

Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis [PDF]

, 2017
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are severe nervous system diseases characterized by the degeneration of lower motor neurons.
Sleigh, JN, Tosolini, AP
core   +2 more sources

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

Experience with nusinersen as a pathogenetic therapy in adult patients with spinal muscular atrophy 5q in the Republic of Bashkortostan

Нервно-мышечные болезни, 2023
Background. Spinal muscular atrophy (SMA) affects 1 in 11,000 people. Until 2016, this was considered an incurable disease, but after the approval of nusinersen, the situation has changed.
S. V. Umutbaev, L. Sh. Murzabaeva, M. A. Kutlubaev, A. V. Shishigin, T. N. Sharipov, E. V. Sayfullina, R. V. Мagzhanov   +6 more
doaj   +1 more source

Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population [PDF]

, 2018
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routinescreening programme for SMA in the UK.
Ar Rochmah, Bailey, Bertini, Boardman, Boardman, Boardman, Boardman, Bombard, Botkin, Chiriboga, Dankert-Roelse, Friedman, Gavrilov, Grob, Himes, Kato, Kesari, Lawton, Lefebvre, Lefebvre, Lefebvre, Lin, Lunn, McClaren, Munsat, Munsat, O'Neill, Ogino, Ogino, Oprea, Parks, Prior, Prior, Prior, Prior, Rose, Rothwell, Schmidt, Swoboda, Timmermans, Tluczek, Wadman, Wang, Wirth, Wood, Xu, Young   +46 more
core   +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

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +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  

Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US [PDF]

, 2020
Background Patients with infantile-onset spinal muscular atrophy (SMA), a rare, genetic neuromuscular disease, do not achieve key motor function milestones (e.g., sitting) and have short life expectancy in the absence of treatment.
Alexandra G. Ellis, C Lally, CH Wang, D Castro, E Mercuri, E Mercuri, E Mercuri, IEC Verhaart, JR Mendell, Matt Stevenson, NICE, P Guyot, P Tappenden, PB Shieh, Praveen Thokala, R Thompson, Richard H. Chapman, RS Finkel, RS Finkel, RS Finkel, S Zuluaga-Sanchez, Shijie Ren, Varun M. Kumar   +22 more
core   +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