Results 61 to 70 of about 3,596 (160)

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Journal of Children's Orthopaedics
Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients.
Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez   +9 more
doaj   +1 more source

Effect of nusinersen on pulmonary function in children with spinal muscular atrophy in the plateau region: A pilot study

Heliyon
Background: The drug nusinersen is applied to improve motor function in patients with spinal muscle atrophy (SMA). However, research on the effects of this treatment on lung function is lacking.
Jicai Zhu, Xiaofang Chen, Haoke Sang, Minming Ma, Chunhui Tang   +4 more
doaj   +1 more source

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, Andreas Totzeck, Kathrin Kizina, Saskia Bolz, Lena Pietruck, Christoph Mönninghoff, Nika Guberina, Denise Oldenburg, Michael Forsting, Christoph Kleinschnitz, Tim Hagenacker   +10 more
doaj   +1 more source

Spinal muscular atrophy and acute lymphoblastic leukemia - is it just a coincidence? [PDF]

Srpski Arhiv za Celokupno Lekarstvo
Introduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Jovanović Kristina, Dimić Jovana, Brkušanin Miloš, Nikolić Dejan, Škorić Dejan   +4 more
doaj   +1 more source

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]

Arquivos de Neuro-Psiquiatria
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça, Hermann dos Santos Fernandes, Rafael Barbéro Schimmelpfeng Pinto, Ciro Matsui Júnior, Graziela Jorge Polido, André Macedo Serafim da Silva, Luis Fernando Grossklauss, Umbertina Conti Reed, Edmar Zanoteli   +8 more
doaj   +2 more sources

Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen

BMC Pediatrics
Background Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder that can be treated with intrathecal nusinersen, an antisense oligonucleotide.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li   +6 more
doaj   +1 more source

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

BMC Neurology
Background Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT).
Miriam Hiebeler, Simone Thiele, Maggie C. Walter   +2 more
doaj   +1 more source

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China

BMC Pediatrics
Background Nusinersen was the first approved disease modifying therapy (DMT) for spinal muscular atrophy (SMA). Intrathecal administration of nusinersen enables drug delivery directly to the central nervous system, where the motor neurons are located ...
Jing Peng, Xiaoli Yao, Rong Luo, Xiuxia Wang, Liwen Wu, Jianmin Zhong, Ruifeng Jin, Xinguo Lu, Jianmin Liang, Siqi Hong, Lin Yang, Xiaoli Zhang, Shanshan Mao, Zhe Tao, Jun Hu, Dan Sun, Hua Wang, Li Zhang, Yanyan Xia, Ken Chen, Yi Wang   +20 more
doaj   +1 more source

Protocol Adherence in Spinal Muscular Atrophy Treated with Nusinersen and Risdiplam: A Retrospective Registry-Based Pharmacoclinical Audit

Recent Trends in Pharmacology
Objective: Disease-modifying therapies such as nusinersen and risdiplam have significantly changed the management of spinal muscular atrophy (SMA). In Spain, both are reimbursed under a national pharmacoclinical protocol with registry-based monitoring ...
Roberto Lozano, Carina Bona
doaj   +1 more source

Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study

Biomedicines
Background: The treatment landscape for spinal muscular atrophy (SMA) has changed significantly with the approval of gene-based therapies such as nusinersen for adults with SMA (pwSMA).
Svenja Neuhoff, Linda-Isabell Schmitt, Kai Christine Liebig, Stefanie Hezel, Nick Isana Tilahun, Christoph Kleinschnitz, Markus Leo, Tim Hagenacker   +7 more
doaj   +1 more source