{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T18:48:51Z","timestamp":1720723731569},"reference-count":14,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T00:00:00Z","timestamp":1576800000000},"content-version":"vor","delay-in-days":49,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:p>Une r\u00e9volution est actuellement en cours dans le domaine des maladies neuromusculaires avec l\u2019arriv\u00e9e de nouvelles th\u00e9rapies. L\u2019amyotrophie spinale (SMA ou <jats:italic>spinal muscular atrophy<\/jats:italic>) est parmi les maladies pionni\u00e8res de ce bouleversement th\u00e9rapeutique. Le premier traitement approuv\u00e9 et mis sur le march\u00e9 en Europe et aux \u00c9tats-Unis est un oligonucl\u00e9otide antisens d\u00e9nomm\u00e9 nusinersen et commercialis\u00e9 par le laboratoire Biogen sous le nom de Spinraza<jats:sup>\u00ae<\/jats:sup>. Il a comme indication les SMA de types 1, 2 et 3. La premi\u00e8re injection de Spinraza<jats:sup>\u00ae<\/jats:sup> dans le cadre d\u2019une ATU\/EAP (Autorisation Temporaire d\u2019Utilisation\/<jats:italic>Expanded Access Program<\/jats:italic> ou programmes d\u2019acc\u00e8s \u00e9tendu) a \u00e9t\u00e9 r\u00e9alis\u00e9e en France par le centre d\u2019essais l-Motion. Les r\u00e9sultats des essais cliniques et des donn\u00e9es de la litt\u00e9rature sur l\u2019utilisation du nusinersen dans la SMA infantile sont discut\u00e9s dans cette revue. Ces \u00e9tudes rapportent une am\u00e9lioration de la fonction motrice chez les patients SMA tous types confondus y compris les patients de type 3 [1, 2]. Une administration pr\u00e9coce du traitement s\u2019accompagne d\u2019une meilleure r\u00e9ponse clinique. Une meilleure compr\u00e9hension de l\u2019h\u00e9t\u00e9rog\u00e9n\u00e9it\u00e9 g\u00e9n\u00e9tique et clinique devient indispensable dans le monitoring et le suivi \u00e0 long terme de ces patients.<\/jats:p>","DOI":"10.1051\/medsci\/2019181","type":"journal-article","created":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T09:02:39Z","timestamp":1576832559000},"page":"11-14","source":"Crossref","is-referenced-by-count":1,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Les oligonucl\u00e9otides anti-sens dans\u00a0la\u00a0SMA"],"prefix":"10.1051","volume":"35","author":[{"given":"Elena","family":"Gargaun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2019,12,20]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"key":"R2","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1212\/WNL.0000000000002445","volume":"86","author":"Chiriboga","year":"2016","journal-title":"Neurology"},{"key":"R3","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.pcl.2015.03.010","volume":"62","author":"Darras","year":"2015","journal-title":"Pediatr Clin North Am"},{"key":"R4","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","volume":"82","author":"Kolb","year":"2017","journal-title":"Ann Neurol"},{"key":"R5","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"R6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"hs2","key":"R7","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1051\/medsci\/201834s209","volume":"34","author":"Urtizberea","year":"2018","journal-title":"Med Sci (Paris)"},{"key":"R8","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1172\/JCI72017","volume":"124","author":"Kariya","year":"2012","journal-title":"J\u00a0Clin Invest"},{"key":"R9","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1136\/jmg.2010.079004","volume":"47","author":"Bernal","year":"2010","journal-title":"Med Genet"},{"key":"R10","doi-asserted-by":"crossref","first-page":"E1110","DOI":"10.1002\/humu.21173","volume":"31","author":"Vezain","year":"2010","journal-title":"Hum Mutat"},{"key":"R11","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/ddx166","volume":"26","author":"Wu","year":"2017","journal-title":"Hum Mol Genet"},{"key":"R12","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3233\/JND-180304","volume":"5","author":"Glascock","year":"2018","journal-title":"J Neuromuscul Dis"},{"issue":"4","key":"R13","first-page":"43","volume":"86","author":"Pane","year":"2019","journal-title":"Ann Neurol"},{"key":"R14","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3233\/JND-180315","volume":"5","author":"Pechmann","year":"2018","journal-title":"J Neuromuscul Dis"}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2019181\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T20:12:48Z","timestamp":1584648768000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2019181"}},"subtitle":["Retour d\u2019exp\u00e9rience et\u00a0donn\u00e9es de la litt\u00e9rature"],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":14,"alternative-id":["medsci190181s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2019181","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11]]}}}