{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:31:03Z","timestamp":1787776263187,"version":"build-2784847793"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Objectives:<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder that leads to anterior horn cell loss. Recent advancements in disease-modifying therapies (DMTs) offer promising new treatment options. This study aimed to evaluate and compare the efficacy and safety profiles of risdiplam, nusinersen, and gene therapy in SMA patients with different disease severities in an Indian cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>An observational retrospective study was conducted between June 2020 and October 2023, involving 47 genetically confirmed SMA patients (types 1\u20133). Participants received treatment with risdiplam (n = 11), nusinersen (Spinraza) (n = 25), gene therapy (n = 9), and combination therapy\/bridging with risdiplam and gene therapy (n = 2). Motor function was assessed using the Hammersmith functional motor scale expanded (HFMSE) and the Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders over 6 monthly follow-up intervals. Safety was monitored by tracking adverse events. As the majority were SMA types 2\/3, the primary outcome was measured using HFMSE scores, with improvement defined as an absolute change in HFMSE score of \u22653 points from the baseline (first visit) to the third visit (completion of 12 months).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      There were 47 patients aged 1\u201323 years (28 girls and 19 boys), who received various DMTs, with a minimum of three visits considered for analysis. All treatments resulted in motor function improvements. Gene therapy showed the most substantial benefit, with a median HFMSE score increase of 4 (2\u201315) compared to 3.5 (0\u20137.25) for nusinersen and 2.5 (0.25\u20138.0) for risdiplam. A positive correlation was observed between the number of SMN2 copies and baseline disease severity (Spearman\u2019s correlation = 0.57;\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      = 0.001). Safety profiles were consistent across all therapies, with no new concerns.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This study underscores the efficacy of contemporary SMA treatments and highlights the potential benefits of personalized treatment strategies, despite variability in disease severity. Future research should focus on optimizing individualized therapy approaches.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_670_24","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T06:00:07Z","timestamp":1754546407000},"page":"547-553","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience"],"prefix":"10.4103","volume":"28","author":[{"given":"Smilu","family":"Mohanlal","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PM","family":"Mubeena","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hafsa","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjula","family":"Anand","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satish","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"VV","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Neurology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tajimal A","family":"Rabia","sequence":"additional","affiliation":[{"name":"Department of Radiology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujith","family":"Janardhanan","sequence":"additional","affiliation":[{"name":"Department of Radiology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"key":"R1-20250821","doi-asserted-by":"crossref","first-page":"11939","DOI":"10.3390\/ijms241511939","article-title":"Spinal muscular atrophy: The Past, 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atrophies","volume":"137","author":"Peeters","year":"2014","journal-title":"Brain"},{"key":"R6-20250821","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1373\/clinchem.2014.231019","article-title":"Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency","volume":"61","author":"Taylor","year":"2015","journal-title":"Clin Chem"},{"key":"R7-20250821","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S2352-4642(22)00342-X","article-title":"Newborn screening for spinal muscular atrophy in Australia: A non-randomised cohort study","volume":"7","author":"Kariyawasam","year":"2023","journal-title":"Lancet Child Adolesc Health"},{"key":"R8-20250821","doi-asserted-by":"crossref","first-page":"e12140","DOI":"10.1371\/journal.pone.0012140","article-title":"SMA CARNI-VAL trial part I: Double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy","volume":"5","author":"Chan","year":"2010","journal-title":"PLoS One"},{"key":"R9-20250821","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s12883-017-0790-9","article-title":"Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy","volume":"17","author":"Pera","year":"2017","journal-title":"BMC Neurol"},{"issue":"(Suppl 1)","key":"R10-20250821","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.1016\/j.nmd.2016.06.069","article-title":"Awareness and utilization of the Hammersmith Functional Motor Scale \u2013Expanded (HFMSE): A survey","volume":"26","author":"Montes","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"R11-20250821","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.brainres.2012.01.044","article-title":"Spinal muscular atrophy: The role of SMN in axonal mRNA regulation","volume":"1462","author":"Fallini","year":"2012","journal-title":"Brain Res"},{"key":"R12-20250821","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mus.21350","article-title":"An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy","volume":"40","author":"Elsheikh","year":"2009","journal-title":"Muscle Nerve"},{"key":"R13-20250821","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1056\/NEJMoa2009965","article-title":"Risdiplam in type 1 spinal muscular atrophy","volume":"384","author":"Baranello","year":"2021","journal-title":"N Engl J Med"},{"key":"R14-20250821","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/phar.2866","article-title":"Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta-analysis","volume":"44","author":"Pascual-Morena","year":"2024","journal-title":"Pharmacotherapy"},{"key":"R15-20250821","doi-asserted-by":"crossref","first-page":"389","DOI":"10.3233\/JND-221560","article-title":"Intrathecal onasemnogene abeparvovec for sitting, nonambulatory patients with spinal muscular atrophy: Phase I ascending-dose study (STRONG)","volume":"10","author":"Finkel","year":"2023","journal-title":"J Neuromuscul Dis"},{"key":"R16-20250821","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1007\/s40263-022-00941-1","article-title":"Onasemnogene abeparvovec: A review in spinal muscular atrophy","volume":"36","author":"Blair","year":"2022","journal-title":"CNS Drugs"},{"key":"R17-20250821","doi-asserted-by":"crossref","first-page":"e2492","DOI":"10.1212\/WNL.0000000000007527","article-title":"Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1\/2 studies","volume":"92","author":"Darras","year":"2019","journal-title":"Neurology"},{"key":"R19-20250821","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":"R20-20250821","first-page":"458","article-title":"Nusinersen combined with risdiplam for the treatment of spinal muscular atrophy: A case series of 10 patients and literature review","volume":"27","author":"Duan","year":"2025","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"R21-20250821","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/mus.27034","article-title":"Combination molecular therapies for type 1 spinal muscular atrophy","volume":"62","author":"Harada","year":"2020","journal-title":"Muscle Nerve"},{"key":"R22-20250821","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1212\/WNL.0000000000201294","article-title":"Bridging the gap: Gene therapy in a patient with spinal muscular atrophy type 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