{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:54:11Z","timestamp":1790805251081,"version":"4.1.0"},"reference-count":18,"publisher":"EDP Sciences","issue":"2","license":[{"start":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T00:00:00Z","timestamp":1583280000000},"content-version":"vor","delay-in-days":32,"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":[[2020,2]]},"abstract":"<jats:p>On convient de dire qu\u2019une g\u00e9n\u00e9ration est n\u00e9cessaire pour faire \u00e9merger une nouvelle famille de m\u00e9dicaments. L\u2019amyotrophie spinale infantile (SMA), apr\u00e8s l\u2019\u00e9lucidation du g\u00e8ne causal en 1995, dispose depuis peu de deux classes innovantes de th\u00e9rapeutiques : l\u2019administration r\u00e9p\u00e9t\u00e9e d\u2019oligonucl\u00e9otides antisens et l\u2019administration unique d\u2019une th\u00e9rapie g\u00e9nique par scAAV9-SMN. En s\u2019adressant aux m\u00e9canismes g\u00e9n\u00e9tiques de la maladie, elles en modifient fondamentalement le cours. Ces avanc\u00e9es majeures dans une maladie extr\u00eamement s\u00e9v\u00e8re, mortelle souvent avant l\u2019\u00e2ge de 18 mois dans les formes de type 1 (50 % des malades), ouvrent la voie pour d\u2019autres pathologies graves du syst\u00e8me nerveux ou neuromusculaire, et apportent une preuve d\u00e9terminante de l\u2019efficacit\u00e9 de ces classes nouvelles de produits appel\u00e9s \u00e0 s\u2019adresser \u00e0 de nombreuses maladies g\u00e9n\u00e9tiques ou acquises. Elles g\u00e9n\u00e8rent aussi de nouvelles questions d\u2019ordre scientifique et technologique (capacit\u00e9s limit\u00e9es de production des quantit\u00e9s n\u00e9cessaires en th\u00e9rapie g\u00e9nique) mais \u00e9galement d\u2019ordre \u00e9thique (conditions d\u2019acc\u00e8s des malades \u00e0 ces th\u00e9rapies innovantes), qui r\u00e9sonnent au-del\u00e0 de cette seule maladie.<\/jats:p>","DOI":"10.1051\/medsci\/2020011","type":"journal-article","created":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T12:25:06Z","timestamp":1583411106000},"page":"141-146","source":"Crossref","is-referenced-by-count":4,"title":["Th\u00e9rapies g\u00e9niques de l\u2019amyotrophie spinale infantile"],"prefix":"10.1051","volume":"36","author":[{"given":"Serge","family":"Braun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2020,3,4]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Nguengang Wakap S, Lambert DM, Olry A, et al. 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