{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:24:45Z","timestamp":1769599485948,"version":"3.49.0"},"reference-count":8,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T00:00:00Z","timestamp":1638921600000},"content-version":"vor","delay-in-days":37,"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":[[2021,11]]},"abstract":"<jats:p>L\u2019amyotrophie spinale proximale li\u00e9e au g\u00e8ne <jats:italic>SMN1<\/jats:italic> (SMA) est une maladie neuromusculaire invalidante dont l\u2019histoire naturelle a \u00e9t\u00e9 sensiblement modifi\u00e9e ces derni\u00e8res ann\u00e9es du fait de l\u2019apparition de th\u00e9rapies innovantes. Le registre SMA France a \u00e9t\u00e9 mis en place en 2020 afin de mieux conna\u00eetre la pathologie et r\u00e9pondre au besoin de donn\u00e9es en vie r\u00e9elle induit par l\u2019arriv\u00e9e de ces nouveaux m\u00e9dicaments. Le but est aussi d\u2019essayer d\u2019identifier les meilleures strat\u00e9gies th\u00e9rapeutiques et d\u2019am\u00e9liorer <jats:italic>in fine<\/jats:italic> la prise en charge de ces patients. Ce registre a le statut d\u2019entrep\u00f4t de donn\u00e9es de sant\u00e9 et collecte des informations r\u00e9trospectives et prospectives de patients SMA de tous types, g\u00e9n\u00e9tiquement confirm\u00e9s, trait\u00e9s ou non par th\u00e9rapies innovantes, et suivis dans les centres du r\u00e9seau FILNEMUS. La population-cible est estim\u00e9e \u00e0 1\u2009000 patients, dont la moiti\u00e9 d\u2019\u00e2ge p\u00e9diatrique. Au 1<jats:sup>er<\/jats:sup> octobre 2021, 666 patients ont \u00e9t\u00e9 inclus dans la base (357 enfants et 309 adultes) par 44 des 51 centres sp\u00e9cialis\u00e9s du r\u00e9seau neuromusculaire FILNEMUS ayant accept\u00e9 de participer. Parmi ces patients, 150 \u00e9taient de type\u00a01 (22\u00a0%), 278 (42\u00a0%) de type 2, 232 (35\u00a0%) de type\u00a03, et 4 de type 4 (1\u00a0%).<\/jats:p>","DOI":"10.1051\/medsci\/2021187","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T04:28:39Z","timestamp":1638937719000},"page":"25-29","source":"Crossref","is-referenced-by-count":7,"special_numbering":"Hors s\u00e9rie n\u00b0 1","title":["Le registre national SMA France\u00a0: des r\u00e9sultats d\u00e9j\u00e0 encourageants"],"prefix":"10.1051","volume":"37","author":[{"given":"Margaux","family":"Lemoine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Gomez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamiae","family":"Grimaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Andoni","family":"Urtizberea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2021,12,8]]},"reference":[{"key":"R1","unstructured":"Les Cahiers d\u2019Orphanet. Pr\u00e9valence des maladies rares : donn\u00e9es bibliographiques. Ser Mal Rares [Internet]. janv 2021;(2). www.orpha.net"},{"key":"R2","doi-asserted-by":"crossref","first-page":"107719","DOI":"10.1016\/j.pharmthera.2020.107719","volume":"220","author":"Iftikhar","year":"2021","journal-title":"Pharmacol Ther"},{"key":"R3","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/j.nmd.2015.09.009","volume":"25","author":"Sansone","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"R4","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Avis de la Commission de la Transparence - SPINRAZA [Internet]. 2018 janv. (www.has-sante.fr)."},{"key":"R5","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Avis de la Commission de la Transparence - SPINRAZA [Internet]. 2020 juill. (https:\/\/www.has-sante.fr)."},{"key":"R6","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Avis de la Commission de la Transparence - ZOLGENSMA [Internet]. 2020 d\u00e9c. www.has-sante.fr."},{"key":"R7","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Avis de la Commission de la Transparence - EVRYSDI [Internet]. 2021 sept. (www.has-sante.fr)."},{"key":"R8","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Amyotrophie spinale infantile [Internet]. Haute Autorit\u00e9 de Sant\u00e9. [cit\u00e9 4 Oct 2021] (www.has-sante.fr)."}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2021187\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T04:29:39Z","timestamp":1638937779000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2021187"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":8,"alternative-id":["medsci210187s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2021187","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11]]}}}