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The proposed classification is primarily based on a two\u2010part differentiation: initial DMT, and persistence\/discontinuation of subsequent DMT(s). Treatment categories were identified: monotherapy add\u2010on, transient add\u2010on, combination with onasemnogene abeparvovec, bridging to onasemnogene abeparvovec, and switching to onasemnogene abeparvovec. We validated this approach by applying the classification to the 443 patients currently in the RESTORE registry and explored the demographics of these different groups of patients. This work forms the basis to explore the safety and efficacy profile of the different combinations of DMT in SMA.<\/jats:p>","DOI":"10.1002\/acn3.51889","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T05:34:26Z","timestamp":1694410466000},"page":"2155-2160","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Combination disease\u2010modifying treatment in spinal muscular atrophy: A proposed classification"],"prefix":"10.1002","volume":"10","author":[{"given":"Crystal M.","family":"Proud","sequence":"first","affiliation":[{"name":"Children's Hospital of The King's Daughters  Norfolk Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology and Nemo Clinical Centre Catholic University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard S.","family":"Finkel","sequence":"additional","affiliation":[{"name":"Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders Medical Center University of Freiburg, Faculty of Medicine  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl C.","family":"De Vivo","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre University College London, Great Ormond Street Institute of Child Health &amp; Great Ormond Street Hospital  London UK"},{"name":"National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics Hospital Vall d'Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker Enfants Malades, APHP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano\u2010Roy","sequence":"additional","affiliation":[{"name":"Garches Neuromuscular Reference Center (GNMH) APHP Raymond Poincare University Hospital (UVSQ Paris Saclay)  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Benguerba","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies Switzerland GmbH  Rotkreuz Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dheeraj","family":"Raju","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies, Inc  Bannockburn Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Faulkner","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies, Inc  Bannockburn Illinois USA"},{"name":"Institute for Precision and Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill  Chapel Hill North Carolina USA"},{"name":"Genomics, Biotech and Emerging Medical Technology Institute, National Association of Managed Care Physicians  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-4061","authenticated-orcid":false,"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Department of Paediatrics MDUK Oxford Neuromuscular Centre &amp; NIHR Oxford Biomedical Research Centre University of Oxford  Oxford UK"},{"name":"Department of Paediatrics, Neuromuscular Reference Center University and University Hospital of Li\u00e8ge  Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.004"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-022-00380-8"},{"key":"e_1_2_8_4_1","volume-title":"Spinraza (nusinersen) [package insert]","year":"2020"},{"key":"e_1_2_8_5_1","volume-title":"Evrysdi (risdiplam)","year":"2022"},{"key":"e_1_2_8_6_1","volume-title":"Zolgensma (onasemnogene abeparvovec\u2010xioi)","year":"2023"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51519"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S369021"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008207"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27034"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.04.006"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.07.001"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27648"},{"key":"e_1_2_8_14_1","first-page":"117","article-title":"Switching therapies: safety profile of onasemnogene abeparvovec\u2010xioi in a SMA1 patient previously treated with risdiplam","volume":"41","author":"Tosi M","year":"2022","journal-title":"Acta Myol"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190451"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-022-02376-y"},{"key":"e_1_2_8_17_1","unstructured":"IannacconeST ToTM DickendesherT et\u00a0al.A retrospective analysis of adherence and persistence among risdiplam\u2010treated patients with spinal muscular atrophy (SMA). Poster presented at: Muscular Dystrophy Association (MDA) Clinical and Scientific Conference; March 19\u2013222023Dallas TX USA."},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-022-04408-w"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51889","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T21:22:06Z","timestamp":1700083326000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.51889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,10]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/acn3.51889"],"URL":"https:\/\/doi.org\/10.1002\/acn3.51889","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,10]]},"assertion":[{"value":"2023-04-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}