Results 31 to 40 of about 6,859 (228)

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

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 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

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

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

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  

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

Antisense oligonucleotides and other genetic therapies made simple [PDF]

, 2018
Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors.
Reilly, M, Rossor, A, Sleigh, JN
core   +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