{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T08:45:09Z","timestamp":1789202709738,"version":"build-2803163510"},"reference-count":42,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,7,6]],"date-time":"2025-07-06T00:00:00Z","timestamp":1751760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two complementary web\u2010based surveys were distributed in August 2024 among patients with SMA and their caregivers. Non\u2010ambulant patients with SMA currently receiving risdiplam or nusinersen, and\/or their primary, informal caregivers were eligible to participate. Survey modules captured clinical, humanistic, productivity, and caregiver\u2010related burden of disease. The PROMIS Fatigue and EQ\u20105D\u20105L were used to assess fatigue and quality of life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>40 pediatric (mean age 8.3\u2009years; represented by caregiver proxies) and 68 adult patients (mean age 37.5\u2009years) were included, of which the majority were on SMN\u2010targeted treatment for \u2265\u20092\u2009years (82.5% and 94.1%, respectively), and nearly half were on treatment for \u2265\u20094\u2009years. Despite continued treatment, muscle weakness was reported in 95% of pediatric and 100% of adult patients, with 63% of pediatric and 68% of adult patients reporting \u201csevere\u201d or \u201cvery severe\u201d muscle weakness that substantially impacted motor function and performance of activities of daily living. Increased fatigue and muscle weakness were associated with worse overall health. Findings also demonstrated impacts of SMA on patient quality of life and well\u2010being. Most participants reported mobility limitations and muscle weakness as being least improved by current treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Despite the use of current treatments, there remains a significant burden of SMA on patients and their caregivers. Muscle weakness and mobility limitations remain key areas of unmet need.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.70132","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T02:27:29Z","timestamp":1751855249000},"page":"2020-2035","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers"],"prefix":"10.1002","volume":"12","author":[{"given":"Julie A.","family":"Parsons","sequence":"first","affiliation":[{"name":"Children's Hospital Colorado University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Land","sequence":"additional","affiliation":[{"name":"Precision AQ  New York City New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa Culhane","family":"Maravic","sequence":"additional","affiliation":[{"name":"Precision AQ  New York City New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Cagle","sequence":"additional","affiliation":[{"name":"Precision AQ  New York City New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Jamaleddine","sequence":"additional","affiliation":[{"name":"Precision AQ  New York City New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1176-094X","authenticated-orcid":false,"given":"Hemal","family":"Shah","sequence":"additional","affiliation":[{"name":"Value Matters, LLC  Brookfield Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1227-1334","authenticated-orcid":false,"given":"Thomas","family":"Brown","sequence":"additional","affiliation":[{"name":"Scholar Rock  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9301-9983","authenticated-orcid":false,"given":"Christabella","family":"Cherubino","sequence":"additional","affiliation":[{"name":"Scholar Rock  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouhamed","family":"Gueye","sequence":"additional","affiliation":[{"name":"Scholar Rock  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,6]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2024.1911"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24864"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13534"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-022-02089-2"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.03.004"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-1339-3"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01498-2"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01701-y"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph17238989"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40273-022-01197-9"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40273-021-01105-7"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-023-04883-8"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.04.006"},{"issue":"1","key":"e_1_2_12_18_1","article-title":"Drug Treatment for Spinal Muscular Atrophy Types II and III","volume":"1","author":"Wadman R. 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