{"id":4062,"date":"2026-02-04T22:20:46","date_gmt":"2026-02-04T20:20:46","guid":{"rendered":"https:\/\/life4hsp.com\/?p=4062"},"modified":"2026-02-04T22:28:20","modified_gmt":"2026-02-04T20:28:20","slug":"spg47-studie-goedgekeurd-maar-ligt-stil-door-gebrek-aan-geld","status":"publish","type":"post","link":"https:\/\/life4hsp.com\/it\/spg47-studie-goedgekeurd-maar-ligt-stil-door-gebrek-aan-geld\/","title":{"rendered":"Studio sulla SPG47 approvato, ma fermo per mancanza di fondi"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">Lo scorso anno l\u2019autorit\u00e0 sanitaria statunitense FDA ha approvato il primo studio clinico su una nuova terapia genica per la SPG47. Tutto era pronto per iniziare, ma attualmente lo studio \u00e8 fermo a causa della mancanza di finanziamenti.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La Fondazione Samen voor Sietse si impegna a raccogliere fondi per consentire la ripresa dello studio il prima possibile.\u00a0<\/span><\/p>\n<h2><b><img fetchpriority=\"high\" decoding=\"async\" class=\"wp-image-4063 size-medium alignright\" src=\"https:\/\/life4hsp.com\/wp-content\/uploads\/2026\/02\/sietse2-237x300.jpg\" alt=\"\" width=\"237\" height=\"300\" srcset=\"https:\/\/life4hsp.com\/wp-content\/uploads\/2026\/02\/sietse2-237x300.jpg 237w, https:\/\/life4hsp.com\/wp-content\/uploads\/2026\/02\/sietse2-9x12.jpg 9w, https:\/\/life4hsp.com\/wp-content\/uploads\/2026\/02\/sietse2.jpg 471w\" sizes=\"(max-width: 237px) 100vw, 237px\" \/><\/b><\/h2>\n<h1><b>Che cos'\u00e8 l'SPG47?<\/b><\/h1>\n<p><span style=\"font-weight: 400;\">La SPG47 \u00e8 causata da una mutazione genetica. Questo difetto impedisce il corretto trasporto di proteine essenziali nel cervello e nei nervi. Sono particolarmente colpite le vie nervose coinvolte nel movimento e le aree cerebrali legate al linguaggio e alle funzioni cognitive, causando:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">ritardo nello sviluppo<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">difficolt\u00e0 di apprendimento e comprensione<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">ritardo o assenza del linguaggio<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">crisi epilettiche<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">spasticit\u00e0 progressiva (rigidit\u00e0 muscolare)<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Attualmente non esiste una terapia in grado di arrestare la malattia.<\/span><\/p>\n<p>&nbsp;<\/p>\n<h2><b>Cosa deve accadere?\u00a0<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">La terapia genica agisce sulla causa della malattia. Il trattamento prevede un\u2019unica iniezione nel liquido cerebrospinale contenente una copia sana del gene. Questo permette alle cellule del bambino di produrre nuovamente la proteina corretta. \u00c8 il primo trattamento per la SPG47 autorizzato per la sperimentazione sull\u2019uomo\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Per i bambini con SPG47 e le loro famiglie, questo studio rappresenta un\u2019opportunit\u00e0 unica. La scienza \u00e8 pronta, ma senza finanziamenti lo studio non pu\u00f2 partire.\u00a0<\/span><\/p>\n<h2><b>Cosa fa la Fondazione Samen voor Sietse?\u00a0<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">La fondazione sostiene la ricerca sull\u2019HSP associata ad AP-4, inclusa la SPG47. Il suo obiettivo principale \u00e8 rendere possibile l\u2019avvio dello studio di terapia genica nei bambini. <\/span><span style=\"font-weight: 400;\"><br \/>\n<\/span><span style=\"font-weight: 400;\"><br \/>\n<\/span><span style=\"font-weight: 400;\">Life4HSP non ha attualmente iniziative proprie sulle varianti AP-4 e sostiene quindi la campagna di Samen voor Sietse dandole visibilit\u00e0. Insieme possiamo fare progressi.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">. <\/span><a href=\"http:\/\/www.samenvoorsietse.nl\"><span style=\"font-weight: 400;\">www.samenvoorsietse.nl<\/span><\/a><span style=\"font-weight: 400;\"> Maggiori informazioni e modalit\u00e0 di aiuto sono disponibili su\u00a0<\/span><\/p>\n<p><iframe title=\"Wij komen in actie voor Sietse (SPG47)\" width=\"800\" height=\"450\" src=\"https:\/\/www.youtube.com\/embed\/irqg23vaE-c?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/p>\n<p><span style=\"font-weight: 400;\">Ogni contributo avvicina l\u2019inizio dello studio.<\/span><\/p>\n<p>&nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>De Amerikaanse gezondheidsautoriteit FDA gaf vorig jaar toestemming voor een eerste proef met een nieuwe gentherapie voor SPG47. Alles stond klaar om het onderzoek te starten. Toch gebeurt er op dit moment niets: de studie ligt stil door gebrek aan financiering. Stichting Samen voor Sietse zet zich in om dit onderzoek zo snel mogelijk te [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":4068,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[12],"tags":[],"class_list":["post-4062","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-nieuws"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>SPG47\u2011studie goedgekeurd, maar ligt stil door gebrek aan geld - Life4HSP<\/title>\n<meta name=\"description\" content=\"De FDA gaf toestemming voor de eerste gentherapiestudie bij SPG47, maar het onderzoek ligt momenteel stil door gebrek aan financiering.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/life4hsp.com\/it\/spg47-studie-goedgekeurd-maar-ligt-stil-door-gebrek-aan-geld\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SPG47\u2011studie goedgekeurd, maar ligt stil door gebrek aan geld - 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