De Waele, Liesbeth; Department of Development and Regeneration, KU Leuven, Leuven, Belgium ; Neuromuscular Reference Centre for Children, Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UK
Language :
English
Title :
Treatment strategies for patients with spinal muscular atrophy.
Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–115. doi: 10.1016/j.nmd.2017.11.005
Ramdas S, Oskoui M, Servais L., Treatment options in spinal muscular atrophy: a pragmatic approach for clinicians. Drugs. 2024;84(7):747–762. doi: 10.1007/s40265-024-02051-2
Aragon-Gawinska K, Mouraux C, Dangouloff T, et al. Spinal muscular atrophy treatment in patients identified by newborn screening—A systematic review. Genes (Basel). 2023;14(7):1377. doi: 10.3390/genes14071377
Zhuang W, Lu M, Wu Y, et al. Safety concerns with nusinersen, risdiplam and onasemnogene abeparvovec in spinal muscular atrophy: a real-world pharmacovigilance study. Clin Drug Investig. 2023;43(12):949–962. doi: 10.1007/s40261-023-01320-4
Schwartz O, Vill K, Pfaffenlehner M, et al. Clinical effectiveness of newborn screening for spinal muscular atrophy: a nonrandomized controlled trial. JAMA Pediatr. 2024;178(6):540–547. doi: 10.1001/jamapediatrics.2024.0492
Kirschner J, Bernert G, Butoianu N, et al. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. Eur J Paediatric Neurol. 2024;51:73–78. doi: 10.1016/j.ejpn.2024.06.001
Dangouloff T, Hiligsmann M, Deconinck N, et al. Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Develop Med Child Neuro. 2023;65(1):67–77. doi: 10.1111/dmcn.15286
Yasar NE, Ozdemir G, Ata EU, et al. Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: what about spine and hip?J Children’s Orthop. 2024;18(3):322–330. doi: 10.1177/18632521241235028
Ngawa M, Dal Farra F, Marinescu A, et al. Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy. Ther Adv Neurol Disord. 2023;16:17562864231154335. doi: 10.1177/17562864231154335
Servais L, Baranello G, Scoto M, et al. Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities. Expert Opin Investig Drugs. 2021;30(5):519–527. doi: 10.1080/13543784.2021.1904889
Mackels L, Mariot V, Buscemi L, et al. Impact of disease severity and disease-modifying therapies on myostatin levels in SMA patients. Int J Mol Sci. 2024;25(16):8763. doi: 10.3390/ijms25168763
Stam M, Wijngaarde CA, Bartels B, et al. Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2–4. Brain Commun. 2022;5(1):fcac324. doi: 10.1093/braincomms/fcac324
Kant-Smits K, Bartels B, Asselman FL, et al. The RESISTANT study (respiratory muscle training in patients with spinal muscular atrophy): study protocol for a randomized controlled trial. BMC Neurol. 2023;23(1):118. doi: 10.1186/s12883-023-03136-3
Novikov A, Maldova M, Shamantseva N, et al. Non-invasive spinal cord stimulation for motor rehabilitation of patients with spinal muscular atrophy treated with orphan drugs. Biomedicines. 2024;12(6):1162. doi: 10.3390/biomedicines12061162
Schroth M, Deans J, Arya K, et al. Spinal muscular atrophy update in best practices: recommendations for diagnosis considerations. Neur Clin Pract. 2024;14(4):e200310. doi: 10.1212/CPJ.0000000000200310