{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:01:44Z","timestamp":1787893304041,"version":"build-2784847793"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T00:00:00Z","timestamp":1589155200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T00:00:00Z","timestamp":1589155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100018936","name":"Universit\u00e4tsklinikum Heidelberg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100018936","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nervenarzt"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:sec>\n                <jats:title>Hintergrund<\/jats:title>\n                <jats:p>Die spinale Muskelatrophie (SMA) ist eine schwere, lebenslimitierende neurodegenerative Erkrankung. Seit Juli 2017 steht in Deutschland eine krankheitsmodifizierende und zugelassene Therapie mit Nusinersen zur Verf\u00fcgung. Eine weitere vielversprechende Behandlungsm\u00f6glichkeit durch eine einmalige Applikation bieten konzeptionell Gentherapien. Im Mai 2019 wurde erstmals eine kausale Genersatztherapie zur Behandlung der spinalen Muskelatrophie von der U.S. Food and Drug Administration (FDA) zugelassen, die Zulassung in Europa ist beantragt.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Ziele<\/jats:title>\n                <jats:p>Dieses Konsensuspapier wurde auf Einladung der Deutschen Gesellschaft f\u00fcr Muskelkranke e.\u202fV. (DGM) unter Beteiligung der deutschen neuromuskul\u00e4ren Behandlungszentren, der deutschen Sektion der Gesellschaft f\u00fcr Neurop\u00e4diatrie (GNP) und unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der DGM erarbeitet. Ziel ist es, die notwendigen Voraussetzungen f\u00fcr eine qualit\u00e4tsgesicherte Anwendung der neuen Gentherapie zu definieren und die Grundlage f\u00fcr die Umsetzung in der klinischen Praxis zu schaffen.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Diskussion<\/jats:title>\n                <jats:p>Die Gentherapie mit Onasemnogene Abeparvovec besitzt das Potenzial, den Krankheitsverlauf der spinalen Muskelatrophie signifikant zu beeinflussen. Langzeitdaten \u00fcber die Nachhaltigkeit der Wirkung und m\u00f6gliche unerw\u00fcnschte Wirkungen liegen derzeit noch nicht vor. Die Anwendung dieser innovativen Therapieform muss in spezialisierten und entsprechend qualifizierten Behandlungszentren unter strengen Sicherheitsauflagen erfolgen. Die vorliegende Arbeit schl\u00e4gt die hierf\u00fcr notwendigen Rahmenbedingungen und Empfehlungen f\u00fcr die systematische Vor- und Nachsorge unter Gentherapie vor. Wirksamkeit und Sicherheit der Therapie sollten in einem industrieunabh\u00e4ngigen, krankheitsspezifischen Register systematisch erfasst werden.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00115-020-00919-8","type":"journal-article","created":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T13:02:48Z","timestamp":1589202168000},"page":"518-529","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec \u2013 AVXS-101","Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec\u2014AVXS-101"],"prefix":"10.1007","volume":"91","author":[{"given":"Andreas","family":"Ziegler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehard","family":"Wilichowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessika","family":"Johannsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"von der Hagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpad","family":"von Moers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Stoltenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Saffari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf A.","family":"Husain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Pechmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"K\u00f6hler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronka","family":"Horber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,5,11]]},"reference":[{"key":"919_CR1","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1080\/14712598.2018.1479739","volume":"18","author":"S Aguti","year":"2018","unstructured":"Aguti\u00a0S, Malerba\u00a0A, Zhou\u00a0H (2018) The progress of AAV-mediated gene therapy in neuromuscular disorders. 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Dtsch Arztebl 116(48):A-2232\/B-1827\/C-1778 (https:\/\/www.aerzteblatt.de\/archiv\/211081\/Spinale-Muskelatrophie-Gentherapie-ohne-Zulassung)","journal-title":"Dtsch Arztebl"}],"container-title":["Der Nervenarzt"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-020-00919-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00115-020-00919-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00115-020-00919-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:54Z","timestamp":1620691254000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00115-020-00919-8"}},"subtitle":["Konsensuspapier der deutschen Vertretung der Gesellschaft f\u00fcr Neurop\u00e4diatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft f\u00fcr Muskelkranke (DGM) e.\u202fV.","Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)"],"short-title":[],"issued":{"date-parts":[[2020,5,11]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["919"],"URL":"https:\/\/doi.org\/10.1007\/s00115-020-00919-8","relation":{},"ISSN":["0028-2804","1433-0407"],"issn-type":[{"value":"0028-2804","type":"print"},{"value":"1433-0407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,11]]},"assertion":[{"value":"11 May 2020","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"A.\u00a0Ziegler hat an wissenschaftlichen Veranstaltungen teilgenommen, die von den Firmen Biogen und Sarepta Therapeutics gesponsert wurden. Er ist als Berater f\u00fcr Advisory Boards der Firmen PTC, Avexis, Biogen und Roche in Dienstaufgabe t\u00e4tig. Zudem war er als Referent f\u00fcr Industriesymposien der Firmen Biogen und Avexis eingeladen ohne Honorarauszahlung auf private Konten. Diese Firmen stellen Therapien f\u00fcr neuromuskul\u00e4re Erkrankungen her. E.\u00a0Wilichowski hat im Rahmen von Kongressen an Workshops teilgenommen, die von den Firmen AveXis, Biogen und Sarepta Therapeutics gesponsert wurden. Er erhielt f\u00fcr Vortr\u00e4ge auf Einladung im Rahmen von Kongressen und Fortbildungsseminaren Honorare und Erstattungen f\u00fcr Reise- und \u00dcbernachtungskosten von den Firmen Santhera und Biogen. Er ist als Berater f\u00fcr Advisory Boards der Firmen PTC, Avexis, Biogen und Roche in Dienstaufgabe t\u00e4tig. U.\u00a0Schara war als Beraterin f\u00fcr Advisory Boards der Firmen PTC, Avexis, Biogen, Roche, Sarepta, Santhera, Dynacure und Alexion t\u00e4tig. Zudem war sie als Referentin f\u00fcr Industriesymposien der Firmen Biogen, Avexis, Sarepta, PTC und Santhera eingeladen. Diese Firmen stellen Therapien f\u00fcr neuromuskul\u00e4re Erkrankungen her. A.\u00a0Hahn hat Honorare f\u00fcr Vortr\u00e4ge und Beratungst\u00e4tigkeit sowie Erstattung von Fortbildungs\u2011, Reise- und \u00dcbernachtungskosten der Firmen Biogen; Avexis und Roche erhalten. W.\u00a0M\u00fcller-Felber: Vortr\u00e4ge und Teilnahme an ad hoc Advisory Boards f\u00fcr die Firmen Avexis, Biogen, PTC, Sarepta, Roche. J.\u00a0Johannsen: Beratert\u00e4tigkeit bzw. Teilnahme an ad hoc Advisory Boards f\u00fcr die Firmen Avexis, Biogen, PTC, Sarepta, Roche. M.\u00a0von der Hagen: Honorare f\u00fcr Vortr\u00e4ge und Beratungst\u00e4tigkeit sowie Erstattung von Fortbildungs\u2011, Reise- und \u00dcbernachtungskosten von Biogen, Avexis, Sarepta. A.\u00a0von Moers hat im Rahmen von Kongressen an Workshops teilgenommen, die von den Firmen Biogen und Sarepta Therapeutics gesponsert wurden. M.C.\u00a0Walter: Beratert\u00e4tigkeit und Teilnahme an ad hoc Advisory Boards f\u00fcr die Firmen Avexis, Biogen, Novartis, Pharnext, PTC, Sarepta, Santhera, Roche, Ultragenyx, Wave. R.A.\u00a0Husain: Honorare f\u00fcr Vortr\u00e4ge und Beratungst\u00e4tigkeit sowie Erstattung von Fortbildungs\u2011, Reise- und \u00dcbernachtungskosten von Biogen; Honorare f\u00fcr Vortr\u00e4ge von PTC. A.\u00a0Pechmann hat Honorare f\u00fcr Vortragst\u00e4tigkeiten von Biogen sowie Zuwendungen f\u00fcr klinische Forschungsprojekte von Biogen und Avexis erhalten. J.\u00a0Kirschner war als Berater und Referent f\u00fcr Avexis, Biogen und Roche t\u00e4tig. Er hat von Avexis, Biogen und Roche F\u00f6rderung f\u00fcr klinische Studien und Forschungsprojekte erhalten. C.\u00a0Stoltenburg, A.\u00a0Saffari, C.\u00a0K\u00f6hler, V.\u00a0Horber und O.\u00a0Schwartz geben an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}