{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:53:40Z","timestamp":1777953220554,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T00:00:00Z","timestamp":1775865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T00:00:00Z","timestamp":1775865600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>Three disease\u2010modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add\u2010on risdiplam in children who had experienced clinical deterioration despite gene therapy with onasemnogene abeparvovec.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a retrospective case series study at two centers of children treated with risdiplam who had previously received onasemnogene abeparvovec. Therapy was evaluated by clinical examination, standardized physiotherapeutic assessments, and parent perspectives.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Five patients with SMA (four male and one female), diagnosed between 0 and 8\u2009months, were included in the study. All had 2\n                      <jats:italic>SMN2<\/jats:italic>\n                      copies and were started on risdiplam between five and 48\u2009months after onasemnogene abeparvovec. Risdiplam was added due to motor regression, dysphagia, new onset of respiratory insufficiency, and\/or recurrent pneumonias. Four children showed improvements in motor development, swallowing, and respiratory function. One child remained stable. Parents perceived a significant improvement in general impression, motor, and respiratory function. The add\u2010on therapy was well tolerated without adverse events.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Our results indicate an improvement in most children in a case series through add\u2010on risdiplam. Evaluating clinical outcome parameters in clinical practice may prove challenging and should be complemented by the parental perspective. The decision regarding the use of add\u2010on therapy in children with SMA who receive one line of treatment but show a clinical deterioration should be considered on an individual level, and assessments of predefined therapeutic goals are recommended.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.70246","type":"journal-article","created":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T07:16:43Z","timestamp":1775891803000},"page":"1164-1171","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Risdiplam Add\u2010On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2\n                    <scp>\n                      <i>SMN2<\/i>\n                    <\/scp>\n                    Copies: A Multi\u2010Center Case Series"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1570-1219","authenticated-orcid":false,"given":"Corinna","family":"Stoltenburg","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Center for Chronically Sick Children Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Section CNS Development and Neurologic Disease German Center for Child and Adolescent Health (DZKJ)  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6936-596X","authenticated-orcid":false,"given":"Klaus","family":"Goldhahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neuropediatrics DRK Klinikum Westend  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7563-9472","authenticated-orcid":false,"given":"Arpad","family":"von Moers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neuropediatrics DRK Klinikum Westend  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9454-206X","authenticated-orcid":false,"given":"Angela M.","family":"Kaindl","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Center for Chronically Sick Children Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Section CNS Development and Neurologic Disease German Center for Child and Adolescent Health (DZKJ)  Germany"},{"name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin Institute of Cell\u2010 and Neurobiology  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6167-5878","authenticated-orcid":false,"given":"Claudia","family":"Wei\u00df","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Center for Chronically Sick Children Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Section CNS Development and Neurologic Disease German Center for Child and Adolescent Health (DZKJ)  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(23)00419-2"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-024-12318-z"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-025-04276-4"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-025-04276-4"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27375"},{"key":"e_1_2_11_7_1","unstructured":"A.Arya KV P.Drake andG. N.Pomerantz \u201cClinical Efficacy and Safety of Risdiplam Use as Combination Therapy in Spinal Muscular Atrophy (SMA) Patients Post Onasemnogene\u2010Abeparvovec\u2010Xioi (Onasemnogene) and\/or Nusinersen Use Cure SMA Virtual Research and Clinical Care Meeting \u201d(2021)."},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2024.06.001"},{"key":"e_1_2_11_9_1","doi-asserted-by":"crossref","DOI":"10.1177\/22143602251387019","article-title":"Delphi Consensus on Gene Therapy of Spinal Muscular Atrophy With Onasemnogene Abeparvovec in Germany, Austria and Switzerland\u2010Part I\u2010Systematic Literature Review and Existing Evidence","author":"Wei\u00df C.","year":"2025","journal-title":"Journal of Neuromuscular Diseases"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-0998-4"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70016-8"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.11.014"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.05.009"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/22143602241308762"},{"key":"e_1_2_11_16_1","unstructured":"\u201cPed(z) Calculator [Internet] \u201dhttps:\/\/www.pedz.de\/de\/rechner.html."},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu14173658"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-244X-11-83"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01356-1"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2021.1272"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-230122"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221531"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.52093"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.28267"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.26919"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03326-3"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.25135"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.28335"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70246","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.70246","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.70246","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T14:35:24Z","timestamp":1777905324000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.70246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,11]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/mus.70246"],"URL":"https:\/\/doi.org\/10.1002\/mus.70246","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,11]]},"assertion":[{"value":"2025-07-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}