Vol 34, No 62 (2024): Continuous Publishing
Editorial
Published online: 2024-08-12
Ensuring continuity and development of spinal muscular atrophy treatment in Poland
1
, 2, 3, 4, 5, 167, 8, 9
, 2, 3, 4, 5, 167, 8, 9
DOI: 10.5603/cn.101979
Neurol Dziec 2024;34(62):1-4.
Abstract
Spinal muscular atrophy is a neuromuscular disease genetically caused by damage to the SMN1 gene. The disease is
characterised by a progressive loss of motor neurons leading to muscle weakness and consequent physical disability and
respiratory failure. In Poland, we treat the widest possible population of SMA patients with all drugs registered for this
indication, despite the very high unit costs. The development of the SMA treatment programme has become a model for
diagnostic and therapeutic management, which can also be applied to the treatment of other rare diseases.
Keywords: spinal muscular atrophySMAonasemnogene abeparvovecgene therapy
References
- Jakubiak L. Co dalej z najdroższą terapią w Polsce? Wkrótce miną dwa lata refundacji . Co dalej z najdroższąhttps://www.rynekzdrowia.pl/Farmacja/Co-dalej-z-najdrozsza-terapia-w-Polsce-Wkrotce-mina-2-lata-refundacji,260593,6.html terapią w Polsce? Wkrótce miną dwa lata refundacji [Internet Katowice: Rynek Zdrowia; 2024 [Dostępne na: https://www. (22.07.2024).
- Wijngaarde CA, Stam M, Otto LAM, et al. Population-based analysis of survival in spinal muscular atrophy. Neurology. 2020; 94(15): e1634–e1644.
- Annoussamy M, Seferian AM, Daron A, et al. NatHis-SMA study group. Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Ann Clin Transl Neurol. 2021; 8(2): 359–373.
- Kirschner J, Bernert G, Butoianu N, et al. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2024; 51: 73–78.
- Servais L, Day JW, De Vivo DC, et al. Real-World outcomes in patients with spinal muscular atrophy treated with onasemnogene abeparvovec monotherapy: findings from the RESTORE registry. J Neuromuscul Dis. 2024; 11(2): 425–442.
- Zolgensma (onasemnogene abeparvovec) Amsterdam: European Medicines Agency; 2020. https://www.ema.europa.eu/en/medicines/human/EPAR/zolgensma (22.07.2024).
- Zolgensma (onasemnogen abeparwowek) we wskazaniu zgodnym z zapisami programu lekowego B.102.FM. Leczenie chorych na rdzeniowy zanik mięśni (ICD-10: G12.0, G12.1). https://bip.aotm.gov.pl/assets/files/Raportzocenyefektywno%C5%9BciTLI/2024%2005%2031%20WS%20425%204%202024%201%20Zolgensma%20ocena%20efektywno%C5%9Bci.pdf (22.07.2024).
- Mendell JR, Al-Zaidy SA, Lehman KJ, et al. Five-Year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy. JAMA Neurol. 2021; 78(7): 834–841.
- Connolly A, Mercuri E, Strauss KA, et al. Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic spinal muscular atrophy: long-term follow-up study. https://www.mdaconference.org/abstract-library/intravenous-and-intrathecal-onasemnogene-abeparvovec-gene-therapy-in-symptomatic-and-presymptomatic-spinal-muscular-atrophy-long-term-follow-up-study/ (22.07.2024).
- Schroth M, Deans J, Arya K, et al. Spinal muscular atrophy update in best practices: recommendations for diagnosis considerations. Neurol Clin Pract. 2024; 14(4): e200310.
- Calucho M, Bernal S, Alías L, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018; 28(3): 208–215.
- Vill K, Tacke M, König A, et al. SMArtCARE study group. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol. 2024; 271(5): 2787–2797.
- Glascock J, Sampson J, Connolly AM, et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul Dis. 2020; 7(2): 97–100.
- Ramos DM, d'Ydewalle C, Gabbeta V, et al. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. J Clin Invest. 2019; 129(11): 4817–4831.
- Finkel R, Benguerba K, Gehani M, et al. Outcomes in patients with spinal muscular atrophy and four or more SMN2 copies treated with onasemnogene abeparvovec: findings from RESTORE (P7-9.007). Neurology. 2023; 100(17_supplement_2).
- Waldrop MA, Chagat S, Storey M, et al. Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio. Neuromuscul Disord. 2024; 34: 41–48.
- Chencheri N, Alexander G, Nugud A, et al. Gene transfer therapy in children with spinal muscular atrophy: a single-center experience with a cohort of 25 children. Muscle Nerve. 2023; 68(3): 269–277.
- Alves CRR, Petrillo M, Spellman R, et al. Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series. Mol Ther Methods Clin Dev. 2021; 23: 524–538.
- Hale JE, Darras BT, Swoboda KJ, et al. Massachusetts' findings from statewide newborn screening for spinal muscular atrophy. Int J Neonatal Screen. 2021; 7(2).
- Müller-Felber W, Vill K, Schwartz O, et al. Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening — opportunity or burden? J Neuromuscul Dis. 2020; 7(2): 109–117.
- Kostera-Pruszczyk A, Napiórkowski Ł, Szymańska K, et al. Spinal muscular atrophy: epidemiology and health burden in children — a Polish national healthcare database perspective before introduction of SMA-specific treatment. Neurol Neurochir Pol. 2021; 55(5): 479–484.
- Key figures on Europe. 2024 edition. Luksemburg: Publications Office of the European Union, 2024. https://ec.europa.eu/eurostat/web/products-key-figures/w/ks-ei-24-001 (22.07.2024).
- IQVIA Institute for Human Data Science. Strengthening Pathways for Cell and Gene Therapies: Current State and Future Scenarios. March 2024. https://www.iqvia.com/insights/the-iqvia-institute/reports-and-publications/reports/strengthening-pathways-for-cell-and-gene-therapies (22.07.2024).
- NCT04488133: A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec (RESPOND) [Internet]. Bethesda, USA: National Library of Medicine. https://clinicaltrials.gov/study/NCT04488133 (22.07.2024).
