{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T23:48:59Z","timestamp":1771976939656,"version":"3.50.1"},"reference-count":15,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T00:00:00Z","timestamp":1761868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Novartis Farma Italy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>We read with interest the recent study by Zaidman et al [...]<\/jats:p>","DOI":"10.3390\/ijns11040102","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T02:48:28Z","timestamp":1761878908000},"page":"102","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Treating Presymptomatic Spinal Muscular Atrophy Patients with Onasemnogene Abeparvovec in Italy: The Role of the National Health System and Drug Supply. Comment on Zaidman et al. Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. Int. J. Neonatal Screen. 2024, 10, 58"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9311-452X","authenticated-orcid":false,"given":"Riccardo","family":"Masson","sequence":"first","affiliation":[{"name":"Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Gaballo","sequence":"additional","affiliation":[{"name":"Novartis Farma, 20154 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Caravita","sequence":"additional","affiliation":[{"name":"Novartis Farma, 20154 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1509-345X","authenticated-orcid":false,"given":"Stefano","family":"Parravicini","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Zaidman, C.M., Crockett, C.D., Wedge, E., Tabatabai, G., and Goedeker, N. (2024). Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10030058"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"Bertini","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","article-title":"Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: The Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"101092","DOI":"10.1016\/j.lanepe.2024.101092","article-title":"Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: A population-based observational study","volume":"47","author":"Weiss","year":"2024","journal-title":"Lancet Reg. Health Eur."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.molmed.2024.12.006","article-title":"Pushing the boundaries: Future directions in the management of spinal muscular atrophy","volume":"31","author":"Moultrie","year":"2025","journal-title":"Trends Mol. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"425","DOI":"10.3233\/JND-230122","article-title":"Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry","volume":"11","author":"Servais","year":"2024","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1001\/jamapediatrics.2024.0492","article-title":"Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial","volume":"178","author":"Schwartz","year":"2024","journal-title":"JAMA Pediatr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e200224","DOI":"10.1212\/CPJ.0000000000200224","article-title":"Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability","volume":"14","author":"Armengol","year":"2024","journal-title":"Neurol. Clin. Pract."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"5269","DOI":"10.1212\/WNL.0000000000205694","article-title":"RAINBOWFISH: Primary Efficacy and Safety Data in Risdiplam-treated Infants with Presymptomatic Spinal Muscular Atrophy (SMA) (S37.006)","volume":"102","author":"Servais","year":"2024","journal-title":"Neurology"},{"key":"ref_10","unstructured":"EMA (2025, July 20). Zolgensma Summary of Product Characteristics. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/zolgensma-epar-product-information_en.pdf."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Ambrosio, A., Fioretti, T., D\u2019Andrea, B., Pezone, L., Bitetti, I., Di Domenico, C., Vallone, S., Maiolo, V., Cioce, A., and Giustino, M. (2025). Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives. Int. J. Neonatal Screen., 11.","DOI":"10.3390\/ijns11030064"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Aragon-Gawinska, K., Mouraux, C., Dangouloff, T., and Servais, L. (2023). Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review. Genes, 14.","DOI":"10.3390\/genes14071377"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1002\/acn3.51889","article-title":"Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification","volume":"10","author":"Proud","year":"2023","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/brain\/awac125","article-title":"Pre-symptomatic spinal muscular atrophy: A proposed nosology","volume":"145","author":"Finkel","year":"2022","journal-title":"Brain"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Cooper, K., Nalbant, G., Sutton, A., Harnan, S., Thokala, P., Chilcott, J., McNeill, A., and Bessey, A. (2024). Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy. Int. J. Neonatal Screen., 10.","DOI":"10.3390\/ijns10030056"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/4\/102\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T03:40:48Z","timestamp":1761882048000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/11\/4\/102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,31]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["ijns11040102"],"URL":"https:\/\/doi.org\/10.3390\/ijns11040102","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,31]]}}}