{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:00:17Z","timestamp":1787029217176,"version":"build-2736575974"},"reference-count":35,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene. SMA is classified into types 0 through 4 based on the age of symptom onset and the severity of motor function decline. Recent advances in SMA treatment, including nusinersen, onasemnogene abeparvovec, and risdiplam, have significantly improved the prognosis of SMA patients. This study evaluated the safety and efficacy of nusinersen in pediatric patients with SMA types 1, 2, and 3 in a real-world clinical setting. Methods: This prospective observational single-center study assessed the treatment effects of nusinersen in 23 pediatric patients with genetically confirmed SMA over a 22-month observation period. All the participants received intrathecal loading doses of 12 mg of nusinersen on days 1, 14, 28, and 63, followed by maintenance doses every four months. Functional assessments were conducted using the CHOP-INTEND scale. Data were collected during routine patient visits, including clinical laboratory tests and vital sign parameters, and adverse events were recorded. The inclusion criteria were defined by the national reimbursement program for nusinersen treatment in Poland. Results: Initially, 37 patients ranging from 1 month old to 18 years old were included, but 23 were ultimately observed due to changes in treatment regimens or assessment scales. The patients showed significantly improved CHOP-INTEND scores over the 22-month period. At 6 months, the average increase was 4.2 points, continuing to 17.8 points at 22 months. By the end of the study, 100% of patients showed either stabilization or improvement, with significant clinical improvements observed in several patients. Nusinersen was generally well-tolerated, with post-lumbar puncture headache and lower back pain being the most common adverse events. Conclusions: Nusinersen treatment significantly enhances motor function in pediatric patients with SMA types 1, 2, and 3. This study demonstrates the importance of early and sustained treatment, with most patients showing the continuous improvement or stabilization of motor function. These findings support the use of nusinersen as an effective therapy for SMA; however, further research is needed to understand the long-term outcomes and optimize treatment strategies.<\/jats:p>","DOI":"10.3390\/neurolint16060096","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T08:42:09Z","timestamp":1730191329000},"page":"1266-1278","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0519-9007","authenticated-orcid":false,"given":"Anna","family":"Lemska","sequence":"first","affiliation":[{"name":"Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Ruminski","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Szymarek","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4658-7092","authenticated-orcid":false,"given":"Sylwia","family":"Studzinska","sequence":"additional","affiliation":[{"name":"Faculty of Chemistry, Nicolaus Copernicus University, 87-100 Torun, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9405-5066","authenticated-orcid":false,"given":"Maria","family":"Mazurkiewicz-Beldzinska","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2000). Spinal Muscular Atrophy. Literature Cited, University of Washington, Seattle. GeneReviews\u00ae [Internet]."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum. Mutat."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: Diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal Muscular Atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol. Clin."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014A literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"7S3","DOI":"10.1016\/S0929-693X(20)30269-4","article-title":"Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)","volume":"27","author":"Lefebvre","year":"2020","journal-title":"Arch. Pediatr."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Chen, T.H. (2020). New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21093297"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/gt.2017.52","article-title":"The clinical landscape for SMA in a new therapeutic era","volume":"24","author":"Talbot","year":"2017","journal-title":"Gene Ther."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Butchbach, M.E.R. (2021). Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22157896"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J. Med. Chem."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3233\/JND-160177","article-title":"Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients","volume":"3","author":"Grotto","year":"2016","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_13","unstructured":"(2024, September 11). The Polish National Treatment Program for Patients with Spinal Muscular Atrophy (SMA), Available online: https:\/\/www.gov.pl\/web\/zdrowie\/obwieszczenia-ministra-zdrowia-lista-lekow-refundowanych."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1002\/acn3.51126","article-title":"Nusinersen in type 0 spinal muscular atrophy: Should we treat?","volume":"7","author":"Tiberi","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.nmd.2009.11.014","article-title":"The Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND): Test development and reliability","volume":"20","author":"Glanzman","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PEP.0b013e3182351f04","article-title":"Validation of the Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)","volume":"23","author":"Glanzman","year":"2011","journal-title":"Pediatr. Phys. Ther."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/ene.13534","article-title":"Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4","volume":"25","author":"Wadman","year":"2018","journal-title":"Eur. J. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1002\/acn3.51281","article-title":"Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study","volume":"8","author":"Annoussamy","year":"2021","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","article-title":"NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators. Natural history of infantile-onset spinal muscular atrophy","volume":"82","author":"Kolb","year":"2017","journal-title":"Ann. Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1080\/14737175.2023.2218549","article-title":"Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: A clinical perspective","volume":"23","author":"Balaji","year":"2023","journal-title":"Expert. Rev. Neurother."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Pera, M.C., Coratti, G., Forcina, N., Mazzone, E.S., Scoto, M., Montes, J., Pasternak, A., Mayhew, A., Messina, S., and Sframeli, M. (2017). Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol., 17.","DOI":"10.1186\/s12883-017-0790-9"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1474-4422(20)30037-5","article-title":"Nusinersen in adults with 5q spinal muscular atrophy: A non-interventional, multicentre, observational cohort study","volume":"19","author":"Hagenacker","year":"2020","journal-title":"Lancet Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1017\/cjn.2020.111","article-title":"A National Spinal Muscular Atrophy Registry for Real-World Evidence","volume":"47","author":"Hodgkinson","year":"2020","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1186\/s13023-023-02769-4","article-title":"Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: A real-world experience","volume":"18","author":"Baranowski","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ejpn.2022.06.001","article-title":"Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy","volume":"39","author":"Kotulska","year":"2022","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1007\/s40263-019-00656-w","article-title":"An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials","volume":"33","author":"Darras","year":"2019","journal-title":"CNS Drugs"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1177\/0883073815627882","article-title":"Intrathecal injections in children with spinal muscular atrophy: Nusinersen clinical trial experience","volume":"31","author":"Swoboda","year":"2016","journal-title":"J. Child Neurol."},{"key":"ref_30","first-page":"e1312","article-title":"Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study","volume":"91","author":"Seferian","year":"2018","journal-title":"Neurology"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/ana.25533","article-title":"Italian Expanded Access Program Working Group. Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data","volume":"86","author":"Pane","year":"2019","journal-title":"Ann. Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/s41582-018-0058-z","article-title":"Neurofilaments as biomarkers in neurological disorders","volume":"14","author":"Khalil","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/acn3.779","article-title":"Neurofilament as a potential biomarker for spinal muscular atrophy","volume":"6","author":"Darras","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/acn3.283","article-title":"Baseline results of the neuroNEXT spinal muscular atrophy infant biomarker study","volume":"3","author":"Kolb","year":"2016","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_35","first-page":"e524","article-title":"Molecular Biomarkers for Spinal Muscular Atrophy: A Systematic Review","volume":"11","author":"Garrison","year":"2021","journal-title":"Neurol. Clin. Pract."}],"container-title":["Neurology International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2035-8377\/16\/6\/96\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:22:59Z","timestamp":1760113379000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2035-8377\/16\/6\/96"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,29]]},"references-count":35,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["neurolint16060096"],"URL":"https:\/\/doi.org\/10.3390\/neurolint16060096","relation":{},"ISSN":["2035-8377"],"issn-type":[{"value":"2035-8377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,29]]}}}