{"id":1862,"date":"2023-04-20T17:27:00","date_gmt":"2023-04-20T15:27:00","guid":{"rendered":"https:\/\/niho.sk\/?p=1862"},"modified":"2024-03-30T17:28:51","modified_gmt":"2024-03-30T16:28:51","slug":"29b-liecivo-onasemnogen-abeparvovek-zolgensma-na-liecbu-presymptomatickych-pacientov-s-5q-sma-s-bialelickou-mutaciou-v-gene-smn1-az-do-3-kopii-genu-smn2","status":"publish","type":"post","link":"https:\/\/niho.sk\/en\/29b-liecivo-onasemnogen-abeparvovek-zolgensma-na-liecbu-presymptomatickych-pacientov-s-5q-sma-s-bialelickou-mutaciou-v-gene-smn1-az-do-3-kopii-genu-smn2\/","title":{"rendered":"29B: Lie\u010divo onasemnog\u00e9n abeparvovek (Zolgensma) na lie\u010dbu presymptomatick\u00fdch pacientov s 5q SMA s bialelickou mut\u00e1ciou v g\u00e9ne SMN1 a\u017e do 3 k\u00f3pi\u00ed g\u00e9nu SMN2"},"content":{"rendered":"
    \n
  1. Ak\u00e1 je z\u00e1\u0165a\u017e ochorenia pre pacienta? Ako z\u00e1sadn\u00e9 je ochorenie?<\/strong><\/li>\n<\/ol>\n\n\n\n

    Spin\u00e1lna muskul\u00e1rna atrofia (SMA) je zriedkav\u00e9 genetick\u00e9 ochorenie sp\u00f4sobuj\u00face svalov\u00fa slabos\u0165 a postupn\u00fa stratu pohybu. Naj\u010dastej\u0161ie doch\u00e1dza k degener\u00e1cii motorick\u00fdch neur\u00f3nov miechy, ktor\u00e9 s\u00fa zodpovedn\u00e9 za chodenie, lozenie, pohyb r\u00fak, hlavy a krku, preh\u013atanie a d\u00fdchanie. Pri r\u00fdchlom z\u00e1chyte ochorenia a jeho lie\u010dbe e\u0161te v presymptomatickom \u0161t\u00e1diu sa predpokladaj\u00fa minim\u00e1lne n\u00e1sledky SMA, preto\u017ee \u010d\u00edm sk\u00f4r sa s lie\u010dbou za\u010dne, t\u00fdm men\u0161ie by malo by\u0165 po\u0161kodenie motorick\u00fdch neur\u00f3nov. Rodi\u010dia\/z\u00e1konn\u00ed z\u00e1stupcovia pre Slovensk\u00fa alianciu zriedkav\u00fdch chor\u00f4b a Organiz\u00e1ciu muskul\u00e1rnych dystrofikov na Slovensku uviedli, \u017ee v pr\u00edpade podst\u00fapenia lie\u010dby presymptomatickej SMA by o\u010dak\u00e1vali, \u017ee sa choroba v\u00f4bec neprejav\u00ed a \u017ee ich deti by mali zdrav\u00fd \u017eivot.<\/p>\n\n\n\n

      \n
    1. O ak\u00fd liek ide?<\/strong><\/li>\n<\/ol>\n\n\n\n

      Onasemnog\u00e9n abeparvovek je g\u00e9nov\u00e1 terapia ur\u010den\u00e1 na zavedenie funk\u010dnej k\u00f3pie g\u00e9nu pre\u017e\u00edvania motorick\u00fdch neur\u00f3nov (SMN1) do transdukovan\u00fdch buniek na vyrie\u0161enie monog\u00e9nnej hlavnej pr\u00ed\u010diny ochorenia. O\u010dak\u00e1va sa, \u017ee zabezpe\u010den\u00edm alternat\u00edvneho zdroja produkcie prote\u00ednu SMN v motorick\u00fdch neur\u00f3noch sa podpor\u00ed pre\u017eitie a funkcia transdukovan\u00fdch motorick\u00fdch neur\u00f3nov. Zolgensma sa pod\u00e1va intraven\u00f3zne vo forme suspenzie vektorov\u00fdch gen\u00f3mov, ktor\u00e9 s\u00fa ur\u010den\u00e9 na jednor\u00e1zov\u00e9 podanie.<\/p>\n\n\n\n

      Liek Zolgensma (onasemnog\u00e9n abeparvovek) bol registrovan\u00fd Eur\u00f3pskou liekovou agent\u00farou (EMA) pod \u010d\u00edslom d\u0148a 18.5.2020.<\/p>\n\n\n\n

        \n
      1. Ako sa na axikabtag\u00e9n ciloleucel pozeraj\u00fa odborn\u00edci? <\/strong><\/li>\n<\/ol>\n\n\n\n

        Klinick\u00fd odborn\u00edk sa vyjadril, \u017ee hodnoten\u00e9 lie\u010divo m\u00e1 v\u00fdznamn\u00fd klinick\u00fd pr\u00ednos v porovnan\u00ed so \u0161tandardom lie\u010dby.<\/p>\n\n\n\n

          \n
        1. \u010co hodnotilo NIHO a ak\u00fd je v\u00fdsledok?<\/strong><\/li>\n<\/ol>\n\n\n\n

          Dr\u017eite\u013e registr\u00e1cie (Novartis Europharm Limited (IRL)) podal \u017eiados\u0165 o zaradenie lie\u010diva onasemnog\u00e9n abeparvovek (Zolgensma) na lie\u010dbu presymptomatick\u00fdch pacientov s 5q SMA s bialelickou mut\u00e1ciou v g\u00e9ne SMN1 a\u017e do 3 k\u00f3pi\u00ed g\u00e9nu SMN2.<\/p>\n\n\n\n

          NIHO odpor\u00fa\u010da vyhovie\u0165 \u017eiadosti o kategorizovanie lieku Zolgensma v predmetnej indik\u00e1ci\u00ed, nako\u013eko po\u017eadovan\u00e1 v\u00fd\u0161ka \u00fahrady sp\u013a\u0148a krit\u00e9ri\u00e1 n\u00e1kladovej efekt\u00edvnosti.<\/p>\n\n\n\n

          V\u00fdsledok hodnotenia n\u00e1kladovej efekt\u00edvnosti je aj pri uvedenej \u00fahrade spojen\u00fd s extr\u00e9mne vysokou mierou neistoty, \u017ee v klinickej praxi nebud\u00fa splnen\u00e9 krit\u00e9ri\u00e1 n\u00e1kladovej efekt\u00edvnosti. Preto NIHO odpor\u00fa\u010da po\u017eadova\u0165 od dr\u017eite\u013ea registr\u00e1cie adekv\u00e1tnu dodato\u010dn\u00fa z\u013eavu, ktorou by sa t\u00e1to neistota kompenzovala.<\/p>\n\n\n\n

          Okrem toho NIHO odpor\u00fa\u010da zv\u00e1\u017ei\u0165 doplnenie indika\u010dn\u00e9ho obmedzenia pod\u013ea n\u00e1vrhu NIHO.<\/p>","protected":false},"excerpt":{"rendered":"

          NIHO odpor\u00fa\u010da vyhovie\u0165 \u017eiadosti o kategorizovanie lieku Zolgensma v predmetnej indik\u00e1ci\u00ed, nako\u013eko po\u017eadovan\u00e1 v\u00fd\u0161ka \u00fahrady sp\u013a\u0148a krit\u00e9ri\u00e1 n\u00e1kladovej efekt\u00edvnosti…<\/p>","protected":false},"author":3,"featured_media":1860,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"inline_featured_image":false,"footnotes":""},"categories":[11],"tags":[95,94],"class_list":["post-1862","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sumar-hodnotenia","tag-onasemnogen-abeparvovek","tag-zolgensma"],"_links":{"self":[{"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/posts\/1862","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/comments?post=1862"}],"version-history":[{"count":0,"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/posts\/1862\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/media\/1860"}],"wp:attachment":[{"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/media?parent=1862"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/categories?post=1862"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/niho.sk\/en\/wp-json\/wp\/v2\/tags?post=1862"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}